A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings

Relatively little is known about 7q terminal deletion contiguous gene deletion syndrome. The deleted region includes more than 40 OMIM genes. We here report on a 13‐year‐old boy with7q terminal deletion syndrome, a 6.89‐Mb sized deletion on 7q36.1q36.3, identified by oligonucleotide array comparativ...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-01, Vol.167A (1), p.198-203
Main Authors: Hyohyeon, Cha, Lee, Cha Gon
Format: Article
Language:English
Subjects:
Adolescent
array CGH
Base Pairing
Child
Child, Preschool
chromosome 7 deletion
Chromosome Deletion
Chromosomes, Human, Pair 7 - genetics
Comparative Genomic Hybridization
HPE3
Humans
Infant, Newborn
Male
penoscrotal transposition
Radiography
Radius - abnormalities
Radius - diagnostic imaging
SHH
Ulna - abnormalities
Ulna - diagnostic imaging
ulnar ray deficiency
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Summary:Relatively little is known about 7q terminal deletion contiguous gene deletion syndrome. The deleted region includes more than 40 OMIM genes. We here report on a 13‐year‐old boy with7q terminal deletion syndrome, a 6.89‐Mb sized deletion on 7q36.1q36.3, identified by oligonucleotide array comparative genomic hybridization (CGH). He showed microform holoprosencephaly with microcephaly, distinctive facial features, severe intellectual disabilities, behavior problems, seizures, short stature, penoscrotal transposition, and ulnar ray deficiency. To date, no case of penoscrotal transposition or ulnar ray deficiency has been reported in 7q terminal syndrome. The majority of our patient presentations were attributed to dosage expression of the SHH gene with contributions from deleted genes within 7q. © 2014 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36792