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Chromosome 7 short-arm interstitial deletion (p14)

✍ Scribed by Sri J. Moedjono; Steve J. Funderburk; Robert S. Sparkes


Publisher
Springer
Year
1978
Tongue
English
Weight
273 KB
Volume
44
Category
Article
ISSN
0340-6717

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✦ Synopsis


A 13-year-old girl presented with microcephaly, short and broad neck, low posterior hairline, congenital heart disease, limitation of joint movement, and mild mental retardation. Chromosomal analysis showed interstitial deletion of band p14 of the short arm of chromosome 7. The patient's physical and cytogenetic findings are compared with those of five other patients with 7p- deletions.


πŸ“œ SIMILAR VOLUMES


Interstitial deletion of the short arm o
✍ J. M. Hertz; W. Coerdt; N. Hahnemann; M. Schwartz πŸ“‚ Article πŸ“… 1988 πŸ› Springer 🌐 English βš– 248 KB

A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pter----p14.2::p11----qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies, a slight