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Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34

โœ Scribed by Bartsch, O.; Kuhnle, U.; Wu, L.L.; Schwinger, E.; Hinkel, G.K.

Book ID
101214722
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
395 KB
Volume
65
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

Two unrelated patients with small distal deletions of the long arm of chromosome 13 are described, with shawl scrotum and penoscrotal transposition, penoscrotal hypospadias, a reduced perineum, and anal atresia. The patients have small deletions of 13(q32.2qter) and 13(q32q34), respectively. This report and the literature present evidence for one or possibly more gene(s) within region 13q32.2q34 which regulate the development of the ano-genital structures. The clinical spectrum includes bifid or shawl scrotum, hypospadias, biseptate uterus, malplaced and imperforate anus, and common cloaca.

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โœ Luo, Jeffrey; Balkin, Nancy; Stewart, Julie F.; Sarwark, John F.; Charrow, Joel; ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 41 KB ๐Ÿ‘ 3 views

Neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q-syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial anomalies, and