Interstitial deletion of the short arm of chromosome 7 without craniosynostosis
โ Scribed by Diana W. Bianchi; Margherita Cirillo-Silengo; Luigi Luzzatti; Robert M. Greenstein
- Book ID
- 119839255
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 435 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0009-9163
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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 an
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