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Terminal deletion of the long arm of chromosome 1 in a malformed newborn

โœ Scribed by E. Kessel; R. A. Pfeiffer; W. Blanke; J. Schwarz

Publisher
Springer
Year
1978
Tongue
English
Weight
282 KB
Volume
42
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

Microcephaly and craniofacial dysmorphia, cleft palate, cardiac malformation, and hypospadias are observed in a child with 46,XY,del (1)(q42).

๐Ÿ“œ SIMILAR VOLUMES

Terminal long-arm deletion of chromosome
Terminal long-arm deletion of chromosome 1 in a male infant
โœ P. J. Dignan; Shirley Soukup ๐Ÿ“‚ Article ๐Ÿ“… 1979 ๐Ÿ› Springer ๐ŸŒ English โš– 519 KB

The clinical findings in a child with a terminal deletion (1) (q42 leads to qter) is described and compared with three cases with a similar chromosomal anomaly.

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Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16)(q21)
โœ J. P. Fryns; S. Melchoir; J. Jaeken; H. Berghe ๐Ÿ“‚ Article ๐Ÿ“… 1977 ๐Ÿ› Springer ๐ŸŒ English โš– 214 KB

A polymalformed newborn with partial monosomy for the long arm of chromosome 16 is presented. Karyotype 46,XX,del(16)(q21). Numerical abnormalities of chromosome 16 have never been reported in liveborn infants, and only one case of partial trisomy for the long arm of chromosome 16 in a polymalforme