Interstitial deletion 5p14.1‐p15.2 and 5q14.3‐q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities

Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high‐pitched cat‐like cry, microcephaly, epicanthal folds, micrognathia, severe intellectual disability and motor delays. Previously,...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2017-10, Vol.173 (10), p.2798-2802
Main Authors: Balta, Burhan, Erdogan, Murat, Ergul, Ayse B., Sahin, Yavuz, Ozcan, Alper
Format: Article
Language:English
Subjects:
5p deletion syndrome
5q deletion
Adult
Arthrogryposis
Arthrogryposis - complications
Arthrogryposis - genetics
Arthrogryposis - pathology
Blepharophimosis
Blepharophimosis - complications
Blepharophimosis - genetics
Blepharophimosis - pathology
Child, Preschool
Chromosome 5
Chromosome Deletion
Chromosomes, Human, Pair 5
Clubfoot
Clubfoot - complications
Clubfoot - genetics
Clubfoot - pathology
Congenital Abnormalities - genetics
Congenital Abnormalities - pathology
Corpus callosum
Female
Genetic disorders
Humans
Infant
Kidneys
Male
microarray analysis
Microencephaly
Neck
Pelvis
Prognosis
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Summary:Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high‐pitched cat‐like cry, microcephaly, epicanthal folds, micrognathia, severe intellectual disability and motor delays. Previously, more than 46 patients with the 5q deletion have been reported. Here, we report de novo interstitial deletions involving 5p14.1–p15.2 and 5q14.3–q23.2 in a patient with multiple congenital abnormalities, including blepharophimosis, arthrogryposis, short neck, round face, pelvic kidney, agenesis of the corpus callosum, and clubfoot. The deletions were characterized using GTG banding and aCGH microarray analysis. Concurrent 5p and 5q interstitial deletions in humans have not been previously reported. We also discussed the relationship between the 5q deleted region and clubfeet.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.38386