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Proximal interstitial deletion of 7q: A case report and review of the literature

โœ Scribed by Zackowski, Joleen L. ;Raffel, Leslie J. ;Blank, Carol A. ;Schwartz, Stuart

Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
447 KB
Volume
36
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

A male infant with multiple congenital anomalies was found to have a deletion of 7q [46,XY,del(7)(pter+ql1.2:: q22-3qter)l. The father had a balanced rearrangement involving chromosomes 7 and 9, interpreted as 46,XY,dir ins(9;7) (9pter+ 9p12::7q22+ 7q11.2:: 9p12-3 9qteq7pter-3 7q11.2 :: 7q22-3 7qter). C-banding showed that the rearrangement occurred as a new event in the paternal grandfather's germ-line.

Including the present patient, 16 cases of proximal 7q deletion (qll+q21/q22) have been described to date. This is a sufficient number of cases to permit comparison of manifestations to attempt delineation of karyotype-phenotype relationships in different proximal interstitial deletions of 7q.

๐Ÿ“œ SIMILAR VOLUMES

Deletion of proximal 6q: A clinical repo
Deletion of proximal 6q: A clinical report and review of the literature
โœ Yamamoto, Yoshifumi ;Okamoto, Noriko ;Shiraishi, Hirohiko ;Yanagisawa, Masayoshi ๐Ÿ“‚ Article ๐Ÿ“… 1986 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 298 KB ๐Ÿ‘ 1 views

We report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 6[46,XY,del(6)(pter+q13::q15+qter)]. A characteristic facial appearance with facial asymmetry, vertebral anomalies, vdgus heels with flat feet, and congenital heart defect seem to form part of a specific de