De novo terminal deletion of chromosome 7 [46, XX, del(7)(q35)]
β Scribed by BH LO; A. MURCH; V. CHABROS; R. WITHNELL
- Book ID
- 115171358
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 306 KB
- Volume
- 32
- Category
- Article
- ISSN
- 1034-4810
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π SIMILAR VOLUMES
A newborn girl with multiple anomalies had an interstitial deletion of the long arm of chromosome 7 (46, XX,der(7)mat). The patient's mother and maternal grandmother were carriers of a balanced translocation, 46,XX, inv ins(5;7)(q14;q3200q2200). Both cytogenetic and clinical findings were similar to
Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,de1(7)(pter + q32:). This infant had cebocephaly with holoprosencephaly . These clinical findings are atypical for the 7qsyndrome, in which patients usually have growth and mental retardation with few facial abnormalities.
We report on a terminal deletion of the long arm of chromosome 3 [46,XX,de1(3)(q27+qter)l in a female newborn infant who died 45 hours after delivery and had multiple congenital abnormalities including bilateral anophthalmia, congenital heart disease, and abnormal genitalia. The findings are compare