21-Monosomy in a liveborn male infant
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A male infant with full 21-monosomy was identified by chromosome investigation. Clinical resemblance to the three former cases was obvious. Radiologic investigation showed unusual skeletal findings.
Key words21-Monosomy Chromosome abnormality Malformations
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- Davis JG, Jenkins EC, Klinger HP, Weed RG (1976) A child with presumptive monosomy 21 (45, XY,-21) in a family in which some members are Gq-. Cytogenet Cell Genet 17:65–77Google Scholar
- Pryns JP, D'Hondt F, Goddeeris P, van den Berghe H (1977) Full monosomy 21: A clinically recognizable syndrome? Hum Genet 37:155–159Google Scholar
- Gripenberg U, Elfving J, Gripenberg L (1972) A 45,XX,21-child: attempt at a cytological and clinical interpretation of the karyotype. J Med Genet 9:110–115Google Scholar
- De Grouchy J, Turleau CK (1977) Clinical atlas of human chromosomes. Wiley Medical, New York, pp 200–209Google Scholar
- Halloran KH, Breg WR, Mahoney MJ (1974) 21 monosomy in a retarded female infant. J Med Genet 11:386–389Google Scholar
- Ikeuchi T, Kondo I, Sasaki M, Kaneko Y, Kodama S, Hattori T (1976) Unbalanced 13q/21q translocation: A revised study of the case previously reported as 21-monosomy. Hum Genet 33:327–330Google Scholar
- Kajii T, Ferrier A, Niikawa N, Takahara H, Ohama K, Sugandhi Avirachan (1980) Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum Genet 55:87–98Google Scholar
- Kaneko Y, Ikeuchi T, Sasaki M, Satake Y, Kuwajima S (1975) A male infant with monosomy 21. Humangenetik 29:1–7Google Scholar
- Lejeune J, Berger R, Tethoré MO, Archambault L, Jerome H, Thieffry S, Aicardi J, Brouer M, Lafourcade J, Cruveiller J, Turpin R (1964) Monosomie partielle pour un petit aqrocnerique. CR Acad Sci 259:4187–4190Google Scholar
- Ohama K, Kajii T (1972) Monosomy 21 in spontaneous abortus. Humangenetik 16: 267–270Google Scholar
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