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

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 i...

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Bibliographic Details
Published in:American journal of medical genetics 1997-08, Vol.71 (2), p.189-193
Main Authors: Stockton, David W., Ross, Helen L., Bacino, Carlos A., Altman, Carolyn A., Shaffer, Lisa G., Lupski, James R.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
chromosome 1p
Chromosome aberrations
chromosome abnormality
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 1 - genetics
congenital heart disease
Craniofacial Abnormalities - genetics
Female
Hand Deformities, Congenital - genetics
Heart Defects, Congenital - genetics
Humans
Infant, Newborn
Karyotyping
Medical genetics
Medical sciences
monosomy 1p
multiple congenital anomaly (MCA) syndrome
Phenotype
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Summary: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. J. Med. Genet. 71:189–193, 1997. © 1997 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19970808)71:2<189::AID-AJMG13>3.0.CO;2-A