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Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

✍ Scribed by Stockton, David W.; Ross, Helen L.; Bacino, Carlos A.; Altman, Carolyn A.; Shaffer, Lisa G.; Lupski, James R.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 36 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970808)71:2<189::aid-ajmg13>3.0.co;2-a

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✦ Synopsis

We report on a newborn girl with malformed ears, bilateral cleft lip and cleft palate, complex congenital heart disease, absent left thumb, and rib abnormalities. Cytogenetic analysis demonstrated a de novo interstitial deletion of the short arm of chromosome 1 [46,XX,del(1)(p21p22.3)]. Reports of interstitial deletions on the short arm of chromosome 1 are rare. However, when comparing this patient's phenotype to others with deletions of 1p, we found that the current case was much more severely affected than previously reported cases. Am.

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