Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHR581 MIFTS: 36	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

MalaCards integrated aliases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

Name: Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb ⁵⁶

Chromosome 17q11.2 Deletion Syndrome, 1.4mb ⁵⁶ ¹² ¹³ ¹⁵

Nf1 Microdeletion Syndrome ⁵⁶ ¹² ⁵⁸ ⁷¹

Neurofibromatosis Type 1 Microdeletion Syndrome ¹² ⁵⁸

Chromosome 17q11.2 Deletion Syndrome, 1.4 Mb ²⁹ ⁶

17q11 Microdeletion Syndrome ¹² ⁵⁸

Van Asperen Syndrome ⁵⁶ ¹²

Neurofibromatosis 1 Microdeletion Syndrome ⁵⁶

17q11.2 Microduplication Syndrome ⁵⁸

Grisart-Destree Syndrome ⁵⁸

Trisomy 17q11.2 ⁵⁸

Monosomy 17q11 ⁵⁸

Dup(17)(q11.2) ⁵⁸

Del(17)(q11) ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

17q11.2 microduplication syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene deletion syndrome
patients have increased numbers and earlier onset of neurofibromas compared to patients with neurofibromatosis-1 due to point mutations

HPO:

³¹

chromosome 17q11.2 deletion syndrome, 1.4-mb:
Inheritance autosomal dominant inheritance sporadic

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Bone diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Other trisomies and partial trisomies of the autosomes, not elsewhere classified

Minor partial trisomy

Other congenital malformations

Phakomatoses, not elsewhere classified

Neurofibromatosis (nonmalignant)

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare circulatory system diseases

Rare renal diseases

Rare bone diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060403

OMIM ⁵⁶ 613675

ICD10 ³² Q85.0

ICD10 via Orphanet ³³ Q85.0 Q92.3

UMLS via Orphanet ⁷² C3150928

Orphanet ⁵⁸ ORPHA139474 ORPHA97685

MedGen ⁴¹ C3150928

SNOMED-CT via HPO ⁶⁸ 103276001 111266001 112643007 more

UMLS ⁷¹ C3150928

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Summaries for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

OMIM : ⁵⁶ Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003). (613675)

MalaCards based summary : Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb, also known as chromosome 17q11.2 deletion syndrome, 1.4mb, is related to chromosome 17q11.2 deletion syndrome and neurofibromatosis, type iv, of riccardi. An important gene associated with Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb is DEL17Q11.2 (Chromosome 17q11.2 Deletion Syndrome). Affiliated tissues include bone, heart and eye, and related phenotypes are intellectual disability and global developmental delay

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Related Diseases for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	chromosome 17q11.2 deletion syndrome	11.9
2	neurofibromatosis, type iv, of riccardi	10.3
3	hepatocellular carcinoma	10.0
4	strabismus	10.0
5	cranioectodermal dysplasia 4	10.0
6	alacrima, achalasia, and mental retardation syndrome	10.0
7	learning disability	10.0
8	mechanical strabismus	10.0
9	pulmonary supravalvular stenosis	10.0
10	hypotonia	10.0
11	cellular neurofibroma	9.8	SUZ12 NF1
12	chromosome 15q26-qter deletion syndrome	9.7	UTP6 LRRC37B CRLF3 ADAP2
13	atypical neurofibroma	9.6	SUZ12 NF1 LRRC37B
14	plexiform neurofibroma	9.6	SUZ12 NF1

Graphical network of the top 20 diseases related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

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Symptoms & Phenotypes for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Human phenotypes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

⁵⁸ ³¹ (show top 50) (show all 52)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0001249
2	global developmental delay ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0001263
3	short stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004322
4	microcephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000252
5	hypoplasia of dental enamel ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006297
6	malar flattening ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000272
7	seizures ⁵⁸ ³¹	very rare (1%)	Occasional (29-5%)	HP:0001250
8	macroorchidism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000053
9	delayed speech and language development ⁵⁸ ³¹	very rare (1%)	Occasional (29-5%)	HP:0000750
10	thick nasal alae ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0009928
11	thin vermilion border ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000233
12	sparse eyelashes ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000653
13	deviated nasal septum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004411
14	bifid nose ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011803
15	sparse and thin eyebrow ³¹	occasional (7.5%)		HP:0000535
16	macrocephaly ³¹	very rare (1%)		HP:0000256
17	hypertelorism ³¹	very rare (1%)		HP:0000316
18	low-set ears ³¹	very rare (1%)		HP:0000369
19	pectus excavatum ³¹	very rare (1%)		HP:0000767
20	scoliosis ³¹	very rare (1%)		HP:0002650
21	muscular hypotonia ³¹	very rare (1%)		HP:0001252
22	coarse facial features ³¹	very rare (1%)		HP:0000280
23	hearing impairment ³¹	very rare (1%)		HP:0000365
24	cafe-au-lait spot ³¹	very rare (1%)		HP:0000957
25	cognitive impairment ³¹	very rare (1%)		HP:0100543
26	strabismus ³¹	very rare (1%)		HP:0000486
27	attention deficit hyperactivity disorder ³¹	very rare (1%)		HP:0007018
28	broad neck ³¹	very rare (1%)		HP:0000475
29	specific learning disability ³¹	very rare (1%)		HP:0001328
30	pes cavus ³¹	very rare (1%)		HP:0001761
31	facial asymmetry ³¹	very rare (1%)		HP:0000324
32	joint hypermobility ³¹	very rare (1%)		HP:0001382
33	tall stature ³¹	very rare (1%)		HP:0000098
34	plexiform neurofibroma ³¹	very rare (1%)		HP:0009732
35	lisch nodules ³¹	very rare (1%)		HP:0009737
36	spinal neurofibromas ³¹	very rare (1%)		HP:0009735
37	bone cyst ³¹	very rare (1%)		HP:0012062
38	large hands ³¹	very rare (1%)		HP:0001176
39	abnormality of cardiovascular system morphology ³¹	very rare (1%)		HP:0030680
40	long foot ³¹	very rare (1%)		HP:0001833
41	focal t2 hyperintense basal ganglia lesion ³¹	very rare (1%)		HP:0007183
42	neurofibrosarcoma ³¹	very rare (1%)		HP:0100697
43	subcutaneous neurofibromas ³¹	very rare (1%)		HP:0100698
44	axillary freckling ³¹	very rare (1%)		HP:0000997
45	optic nerve glioma ³¹	very rare (1%)		HP:0009734
46	generalized hypotonia ³¹			HP:0001290
47	abnormality of dental enamel ⁵⁸		Frequent (79-30%)
48	abnormal heart morphology ³¹			HP:0001627
49	overgrowth ³¹			HP:0001548
50	sparse eyebrow ⁵⁸		Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
hypertelorism
lisch nodules (iris hamartomas) (93%)

Skin Nails Hair Skin:
axillary freckling
inguinal freckling
neurofibromas, subcutaneous (76%)
neurofibromas, cutaneous (86%)
plexiform neurofibroma (76%)
more

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (31%)

Head And Neck Head:
macrocephaly (39%)

Skeletal:
bone cysts (50%)
increased joint laxity (72%)

Skeletal Hands:
large hands (46%)
accelerated carpal bone age

Muscle Soft Tissue:
hypotonia (45%)
soft fleshy palms (50%)

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit hyperactivity disorder (33%)
attention difficulties (73%)

Head And Neck Face:
facial asymmetry
coarse facies
facial dysmorphism (in up to 90%)

Growth Other:
generalized overgrowth

Growth Height:
tall stature (46%)

Cardiovascular Heart:
congenital heart defects (21%)

Skeletal Spine:
scoliosis (43%)

Skeletal Feet:
large feet (46%)
pes cavus (17%)

Neurologic Central Nervous System:
delayed cognitive development/learning disabilities (93%)
mental retardation (38%)
speech difficulties (48%)
spinal neurofibromas (64%)
brain mri shows t2-weighted hyperintensities (17%)

Neoplasia:
optic glioma (19%)
malignant peripheral nerve sheath tumors (21%)

Clinical features from OMIM:

613675

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Drugs & Therapeutics for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Search Clinical Trials , NIH Clinical Center for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

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Genetic Tests for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genetic tests related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

#	Genetic test	Affiliating Genes
1	Chromosome 17q11.2 Deletion Syndrome, 1.4 Mb ²⁹

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Anatomical Context for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

MalaCards organs/tissues related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

⁴⁰

Bone, Heart, Eye, Brain, Skin

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Publications for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Articles related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

(show all 45)

#	Title	Authors	PMID	Year
1	ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome. ⁶¹ ⁵⁶	Venturin M...Riva P	24711647	2014
2	NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? ⁶¹ ⁵⁶	Grisart B...Destree A	18183042	2008
3	Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 gene. ⁶¹ ⁵⁶	Gervasini C...Riva P	15676286	2005
4	NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. ⁶¹ ⁵⁶	Riva P...Larizza L	10631140	2000
5	Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. ⁵⁶	Wright CF...Weedon MN	30665703	2019
6	Prevalence and architecture of de novo mutations in developmental disorders. ⁵⁶	Deciphering Developmental Disorders Study	28135719	2017
7	Analysis of protein-coding genetic variation in 60,706 humans. ⁵⁶	Lek M...Exome Aggregation Consortium	27535533	2016
8	Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. ⁵⁶	Roehl AC...Kehrer-Sawatzki H	20725927	2010
9	Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. ⁵⁶	Mautner VF...Kehrer-Sawatzki H	20543202	2010
10	Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. ⁵⁶	Steinmann K...Kehrer-Sawatzki H	17999360	2007
11	Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. ⁵⁶	Douglas J...Rahman N	17632510	2007
12	High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. ⁵⁶	Kehrer-Sawatzki H...Mautner VF	15257518	2004
13	Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. ⁵⁶	Venturin M...Riva P	14729829	2004
14	Elevated risk for MPNST in NF1 microdeletion patients. ⁵⁶	De Raedt T...Legius E	12660952	2003
15	Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. ⁵⁶	Jenne DE...Kehrer-Sawatzki H	11468690	2001
16	Recombination hotspot in NF1 microdeletion patients. ⁵⁶	Lopez-Correa C...Legius E	11440991	2001
17	Unequal meiotic crossover: a frequent cause of NF1 microdeletions. ⁵⁶	Lopez Correa C...Legius E	10775528	2000
18	Refined mapping of the human serotonin transporter (SLC6A4) gene within 17q11 adjacent to the CPD and NF1 genes. ⁵⁶	Shen S...Harmar AJ	10713891	2000
19	NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. ⁵⁶	Dorschner MO...Stephens K	10587576	2000
20	Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2. ⁵⁶	Streubel B...Rehder H	10528240	1999
21	Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. ⁵⁶	Rasmussen SA...Wallace MR	9643287	1998
22	Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. ⁵⁶	Upadhyaya M...Cooper DN	9654211	1998
23	Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome. ⁵⁶	van Asperen CJ...Hennekam RC	9598729	1998
24	Do NF1 gene deletions result in a characteristic phenotype? ⁵⁶	Tonsgard JH...Lindgren V	9375928	1997
25	Deletion of the entire NF1 gene causing distinct manifestations in a family. ⁵⁶	Wu BL...Korf BR	9066892	1997
26	Somatic mosaicism for deletion of the entire NF1 gene identified by FISH. ⁵⁶	Wu BL...Korf BR	9048923	1997
27	Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1? ⁵⁶	Cnossen MH...Niermeijer MF	9143927	1997
28	Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome. ⁵⁶	Riva P...Larizza L	8931693	1996
29	A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. ⁵⁶	Upadhyaya M...Hughes HE	8929953	1996
30	Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations. ⁵⁶	Wu BL...Korf BR	8585580	1995
31	Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. ⁵⁶	Kayes LM...Stephens K	8116612	1994
32	NF1 microdeletion syndrome: case report of two new patients. ⁶¹	Serra G...Falsaperla R	31703719	2019
33	Rare NF1 microdeletion syndrome in an Omani patient. ⁶¹	Al-Araimi M...Mula-Abed WA	30564341	2018
34	Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth. ⁶¹	Ferrari L...Riva P	28776093	2017
35	Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome. ⁶¹	Tassano E...Ronchetto P	28605748	2017
36	[Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion]. ⁶¹	Lin S...Luo Y	27060318	2016
37	A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features. ⁶¹	Xie B...Shen Y	27247625	2016
38	NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. ⁶¹	Moles KJ...Shaffer LG	22241097	2012
39	Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. ⁶¹	Vogt J...Kehrer-Sawatzki H	22151963	2011
40	Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice. ⁶¹	Bae KB...Ryoo ZY	21221781	2011
41	Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients. ⁶¹	Piddubnyak V...Poyet JL	17380155	2007
42	Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. ⁶¹	Mensink KA...Babovic-Vuksanovic D	16467218	2006
43	Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. ⁶¹	Venturin M...Riva P	16138909	2005
44	Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. ⁶¹	Venturin M...Riva P	15103551	2004
45	Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers. ⁶¹	Bentivegna A...Riva P	11479735	2001

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Genes for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Genes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb (2 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	DEL17Q11.2	Chromosome 17q11.2 Deletion Syndrome	Genetic Locus	500	Structural variation ⁵⁶
2	NF1	Neurofibromin 1	Protein Coding	31.89	Role in the phenotype ⁵⁸ DISEASES inferred ¹⁵
3	ADAP2	ArfGAP With Dual PH Domains 2	Protein Coding	8.28	DISEASES inferred ¹⁵
4	UTP6	UTP6 Small Subunit Processome Component	Protein Coding	7.92	DISEASES inferred ¹⁵
5	LRRC37B	Leucine Rich Repeat Containing 37B	Protein Coding	7.51	DISEASES inferred ¹⁵
6	RAB11FIP4	RAB11 Family Interacting Protein 4	Protein Coding	7.49	DISEASES inferred ¹⁵
7	CRLF3	Cytokine Receptor Like Factor 3	Protein Coding	7.14	DISEASES inferred ¹⁵
8	ATAD5	ATPase Family AAA Domain Containing 5	Protein Coding	7	DISEASES inferred ¹⁵
9	TEFM	Transcription Elongation Factor, Mitochondrial	Protein Coding	7	DISEASES inferred ¹⁵
10	RNF135	Ring Finger Protein 135	Protein Coding	6.98	DISEASES inferred ¹⁵
11	EVI2A	Ecotropic Viral Integration Site 2A	Protein Coding	6.91	DISEASES inferred ¹⁵
12	COPRS	Coordinator Of PRMT5 And Differentiation Stimulator	Protein Coding	6.9	DISEASES inferred ¹⁵
13	EVI2B	Ecotropic Viral Integration Site 2B	Protein Coding	6.86	DISEASES inferred ¹⁵
14	SUZ12	SUZ12 Polycomb Repressive Complex 2 Subunit	Protein Coding	6.69	DISEASES inferred ¹⁵
15	CDK5R1	Cyclin Dependent Kinase 5 Regulatory Subunit 1	Protein Coding	6.6	DISEASES inferred ¹⁵
16	OMG	Oligodendrocyte Myelin Glycoprotein	Protein Coding	6.34	DISEASES inferred ¹⁵

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Variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

ClinVar genetic disease variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb:

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	subset of 14 genes: NF1 , RNF135	GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1	copy number loss	Pathogenic	666441		17:28941066-30326958

Copy number variations for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb from CNVD:

⁷

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	109502	17	26446120	26728821	Microdeletion	NF1	NF1 microdeletion syndrome

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Expression for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Search GEO for disease gene expression data for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb.

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Pathways for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

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GO Terms for Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb

Biological processes related to Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell cycle arrest	GO:0071158	8.62	CRLF3 CDK5R1

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