Tetraploidy in a 15-month-old girl

We present a 15-month-old girl with tetraploidy and compare the manifestations with those of 3 previously reported liveborn infants with the same type of polyploidy. Common anomalies noted included micro-turricephaly, a prominent but narrow forehead, microphalmia or anophthalmia, limb anomaly, sacra...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 29; no. 3; p. 543
Main Authors Shiono, H, Azumi, J, Fujiwara, M, Yamazaki, H, Kikuchi, K
Format Journal Article
LanguageEnglish
Published United States 01.03.1988
Subjects
Chromosome Banding
Female
Fibroblasts - cytology
Humans
Infant
Leukocytes - cytology
Male
Polyploidy
Sex Chromosome Aberrations
Skin - pathology
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Summary:We present a 15-month-old girl with tetraploidy and compare the manifestations with those of 3 previously reported liveborn infants with the same type of polyploidy. Common anomalies noted included micro-turricephaly, a prominent but narrow forehead, microphalmia or anophthalmia, limb anomaly, sacral meningomyelocele, and mental retardation.
ISSN:0148-7299
DOI:10.1002/ajmg.1320290311