MCID: CHR391
MIFTS: 32

Chromosome 15q24 Deletion Syndrome

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 15q24 Deletion Syndrome

MalaCards integrated aliases for Chromosome 15q24 Deletion Syndrome:

Name: Chromosome 15q24 Deletion Syndrome 12 13 14 69
15q24 Microdeletion Syndrome 12 23 49 24
15q24 Microdeletion 24 41
Interstitial Deletion of Chromosome 15q24 24
Monosomy 15q24 49
15q24 Deletion 24
Del(15)(q24) 49

Characteristics:

GeneReviews:

23
Penetrance Penetrance is 100%: clinical features of 15q24 microdeletion syndrome are apparent in all individuals with the microdeletion, although the extent and severity of clinical findings vary among individuals...

Classifications:



Summaries for Chromosome 15q24 Deletion Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 94065Disease definition15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.EpidemiologyThe prevalence of 15q24 deletion syndrome is unknown. To date, 19 cases with clinical data and detailed mapping of genomic breakpoints have been reported.Clinical descriptionAt birth, approximately 1/3 of patients have low birth weight consistent with intrauterine growth retardation. Feeding difficulties and failure to thrive are reported in about 20%. In later childhood, 30% show growth retardation and short stature and 17% obesity. Growth hormone (GH) deficiency may be present. Growth delay, feeding difficulties, and distinct facial features (long face with high anterior hairline, epicanthal folds, hypertelorism, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed nasal bridge, long smooth philtrum, and small mouth with full lower lip) are the most common early presenting symptoms. Most patients (90%) have digital deformities (proximally implanted and/or hypoplastic thumbs, clinodactyly, brachydactyly, overriding toes, toe syndactyly, small hands). Approximately 60% have skeletal complications (joint laxity and scoliosis). Hernias are found as well as hypotonia (60%). Eye abnormalities are common (nystagmus and strabismus). Ear abnormalities are variable but common (large ears, ear lobe pits, anteverted ear lobes, and protuberant ears). Genital abnormalities are common in males (60%). Mild to moderate developmental delay is found in all patients. Behavior abnormalities, such as autism, hyperactivity, aggression, and attention deficit are reported in 37%. Approximately 50% of patients have abnormal brain imaging on magnetic resonance imaging (MRI). Nearly 40% have a history of recurrent infections. Recurrent ear infections may be a predisposing factor to hearing loss (25%). Microcephaly is uncommon (20%). Other congenital malformations, while rare, can be severe and include cardiovascular malformations, congenital diaphragmatic hernia, intestinal atresia, imperforate anus, and myelomeningocele (see these terms).EtiologyThe syndrome is caused by a microdeletion of 1.7 to 6.1 Mb in size in chromosome 15q24 which usually results from nonallelic homologous recombination (NAHR). The smallest region of overlap (SRO) spans a 1.2 Mb region including several candidate genes that may predispose to many of the clinical features: CYP11A1, SEMA7A, CPLX3, ARID3B, STRA6, SIN3A and CSK.Diagnostic methodsOligonucleotide array CGH (aCGH) with confirmation by fluorescent in-situ hybridization (FISH) detects most, if not all, deletions of 15q24. Karyotypes are typically normal.Differential diagnosisDifferential diagnoses include other genetic syndromes, particularly monosomy 22q11, Prader-Willi, and Noonan syndromes (see these terms).Antenatal diagnosisDeletion of 15q24 can be detected in amniotic fluid or chorionic villi samples. Since routine karyotyping is not sufficient to detect the deletion, aCGH should be performed.Genetic counselingThe deletion occurred as a de novo event in all reported patients when parents were available for testing. Parental aCGH and/or FISH studies are recommended to provide accurate genetic counseling.Management and treatmentManagement should be multi-disciplinary with the primary care physician and clinical geneticist playing crucial roles in appropriate screening, surveillance, and care. At the time of diagnosis, baseline echocardiograms, audiologic, ophthalmologic, and developmental assessments are needed. Growth and feeding should be monitored closely.PrognosisThe prognosis is variable and depends on the severity and extent of congenital malformations.Visit the Orphanet disease page for more resources. Last updated: 7/1/2012

MalaCards based summary : Chromosome 15q24 Deletion Syndrome, also known as 15q24 microdeletion syndrome, is related to witteveen-kolk syndrome and diaphragmatic hernia, congenital, and has symptoms including inguinal hernia, hypospadias and hypogonadism. An important gene associated with Chromosome 15q24 Deletion Syndrome is SEMA7A (Semaphorin 7A (John Milton Hagen Blood Group)). Affiliated tissues include eye, testes and brain, and related phenotype is mortality/aging.

Genetics Home Reference : 24 15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.

GeneReviews: NBK84258

Related Diseases for Chromosome 15q24 Deletion Syndrome

Diseases related to Chromosome 15q24 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 witteveen-kolk syndrome 11.5
2 diaphragmatic hernia, congenital 10.0
3 autism 10.0
4 autism spectrum disorder 10.0
5 common variable immunodeficiency 9.9

Graphical network of the top 20 diseases related to Chromosome 15q24 Deletion Syndrome:



Diseases related to Chromosome 15q24 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 15q24 Deletion Syndrome

Human phenotypes related to Chromosome 15q24 Deletion Syndrome:

31 (show top 50) (show all 58)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 occasional (7.5%) HP:0000023
2 hypospadias 31 frequent (33%) HP:0000047
3 hypogonadism 31 frequent (33%) HP:0000135
4 narrow mouth 31 hallmark (90%) HP:0000160
5 thick lower lip vermilion 31 hallmark (90%) HP:0000179
6 high palate 31 occasional (7.5%) HP:0000218
7 microcephaly 31 frequent (33%) HP:0000252
8 narrow face 31 frequent (33%) HP:0000275
9 long face 31 frequent (33%) HP:0000276
10 epicanthus 31 occasional (7.5%) HP:0000286
11 hypertelorism 31 hallmark (90%) HP:0000316
12 smooth philtrum 31 frequent (33%) HP:0000319
13 facial asymmetry 31 occasional (7.5%) HP:0000324
14 long philtrum 31 hallmark (90%) HP:0000343
15 hearing impairment 31 frequent (33%) HP:0000365
16 cupped ear 31 frequent (33%) HP:0000378
17 macrotia 31 frequent (33%) HP:0000400
18 prominent nasal bridge 31 frequent (33%) HP:0000426
19 underdeveloped nasal alae 31 occasional (7.5%) HP:0000430
20 wide nasal bridge 31 frequent (33%) HP:0000431
21 strabismus 31 frequent (33%) HP:0000486
22 deeply set eye 31 occasional (7.5%) HP:0000490
23 downslanted palpebral fissures 31 frequent (33%) HP:0000494
24 sparse and thin eyebrow 31 frequent (33%) HP:0000535
25 microphthalmia 31 occasional (7.5%) HP:0000568
26 nystagmus 31 occasional (7.5%) HP:0000639
27 congenital diaphragmatic hernia 31 occasional (7.5%) HP:0000776
28 intellectual disability 31 hallmark (90%) HP:0001249
29 seizures 31 occasional (7.5%) HP:0001250
30 global developmental delay 31 hallmark (90%) HP:0001263
31 intrauterine growth retardation 31 frequent (33%) HP:0001511
32 hoarse voice 31 occasional (7.5%) HP:0001609
33 nasal speech 31 occasional (7.5%) HP:0001611
34 pes cavus 31 occasional (7.5%) HP:0001761
35 toe syndactyly 31 occasional (7.5%) HP:0001770
36 sandal gap 31 occasional (7.5%) HP:0001852
37 toe clinodactyly 31 occasional (7.5%) HP:0001863
38 deep plantar creases 31 occasional (7.5%) HP:0001869
39 highly arched eyebrow 31 frequent (33%) HP:0002553
40 scoliosis 31 frequent (33%) HP:0002650
41 immunodeficiency 31 frequent (33%) HP:0002721
42 short nose 31 occasional (7.5%) HP:0003196
43 short palm 31 occasional (7.5%) HP:0004279
44 short stature 31 frequent (33%) HP:0004322
45 joint hyperflexibility 31 frequent (33%) HP:0005692
46 attention deficit hyperactivity disorder 31 occasional (7.5%) HP:0007018
47 bilateral single transverse palmar creases 31 frequent (33%) HP:0007598
48 abnormality of the proximal phalanx of the thumb 31 occasional (7.5%) HP:0009618
49 proximal placement of thumb 31 frequent (33%) HP:0009623
50 short thumb 31 occasional (7.5%) HP:0009778

MGI Mouse Phenotypes related to Chromosome 15q24 Deletion Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.23 ARID3B CPLX3 CYP11A1 DYNC1H1 RTL1 SETBP1

Drugs & Therapeutics for Chromosome 15q24 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 15q24 Deletion Syndrome

Cochrane evidence based reviews: 15q24 microdeletion

Genetic Tests for Chromosome 15q24 Deletion Syndrome

Anatomical Context for Chromosome 15q24 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 15q24 Deletion Syndrome:

38
Eye, Testes, Brain

Publications for Chromosome 15q24 Deletion Syndrome

Articles related to Chromosome 15q24 Deletion Syndrome:

# Title Authors Year
1
Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability. ( 25527279 )
2015
2
Chromosome 15q24 microdeletion syndrome. ( 22216833 )
2012
3
Further clinical and molecular delineation of the 15q24 microdeletion syndrome. ( 22180641 )
2012
4
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. ( 20678247 )
2010
5
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. ( 19233321 )
2009
6
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. ( 17932688 )
2008
7
A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients. ( 18755302 )
2008
8
Characterization of a recurrent 15q24 microdeletion syndrome. ( 17360722 )
2007
9
15q24 Microdeletion Syndrome ( 22359776 )
1993

Variations for Chromosome 15q24 Deletion Syndrome

Copy number variations for Chromosome 15q24 Deletion Syndrome from CNVD:

7 (show all 17)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 94771 15 70400000 76100000 Microdeletion 15q24 microdeletion syndrome
2 94772 15 70400000 76100000 Microdeletion 15q24 microdeletion syndrome
3 94773 15 70400000 76100000 Microdeletion 15q24 microdeletion syndrome
4 94776 15 70400000 76100000 Microdeletion ARID3B 15q24 microdeletion syndrome
5 94777 15 70400000 76100000 Microdeletion COMMD4 15q24 microdeletion syndrome
6 94778 15 70400000 76100000 Microdeletion CPLX3 15q24 microdeletion syndrome
7 94779 15 70400000 76100000 Microdeletion CSK 15q24 microdeletion syndrome
8 94780 15 70400000 76100000 Microdeletion CYP11A1 15q24 microdeletion syndrome
9 94781 15 70400000 76100000 Microdeletion CYP1A1 15q24 microdeletion syndrome
10 94782 15 70400000 76100000 Microdeletion MAN2C1 15q24 microdeletion syndrome
11 94783 15 70400000 76100000 Microdeletion NEIL1 15q24 microdeletion syndrome
12 94784 15 70400000 76100000 Microdeletion PTPN9 15q24 microdeletion syndrome
13 94785 15 70400000 76100000 Microdeletion SEMA7A 15q24 microdeletion syndrome
14 94786 15 70400000 76100000 Microdeletion SEMA7A 15q24 microdeletion syndrome
15 94787 15 70400000 76100000 Microdeletion SIN3A 15q24 microdeletion syndrome
16 94788 15 70400000 76100000 Microdeletion SIN3A 15q24 microdeletion syndrome
17 94789 15 70400000 76100000 Microdeletion STRA6 15q24 microdeletion syndrome

Expression for Chromosome 15q24 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 15q24 Deletion Syndrome.

Pathways for Chromosome 15q24 Deletion Syndrome

GO Terms for Chromosome 15q24 Deletion Syndrome

Sources for Chromosome 15q24 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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