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Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20

✍ Scribed by Michiko Okada; Akemi Usami; Kaori Okajima; Miwako Yamada; Yuka Yamaguchi; Izumi Umezaki; Yoshio Matsuda; Hiroaki Ohta


Book ID
111300851
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
239 KB
Volume
45
Category
Article
ISSN
0914-3505

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πŸ“œ SIMILAR VOLUMES


Partial trisomy for short arm of chromos
✍ KOJI YASUTOMO; TAKESHI SUZUE; ATSUKO NISHIOKA; HIROKO KOZAN; TAKANORI SEKIGUCHI; πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 614 KB
Partial monosomy of the short arm of chr
✍ J. Deroover; J. P. Fryns; C. Parloir; J. Haegeman; H. Berghe πŸ“‚ Article πŸ“… 1978 πŸ› Springer 🌐 English βš– 278 KB

A 10-year-old girl with partial deletion of the short arm of chromosome 9 is reported; karyotype: 46,XX,del(9)(p22). This syndrome results in a distinctive craniofacial dysmorphism with trigonocephaly and contrasting midfacial hypoplasia. Partial monosomy 9p was the result of a paternal de novo germ

Partial trisomy of the short arm of chro
✍ C. Parloir; J. P. Fryns; H. Van den Berghe πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 305 KB

Two profoundly mentally retarded brothers with partial trisomy for the distal part of the short arm of chromosome 3 (3p25 to 3pter) are described. Their anomaly arose as a segregation product of a balanced t(3p-;18q+) translocation in the mother. Compared with the other cases of partial 3p trisomy r

Partial duplication of the short arm of
✍ J. P. Fryns; J. Deroover; J. Haegeman; H. Berghe πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 226 KB

A 21-year-old mentally retarded female with 10p12 trisomy is reported. She presented a slight craniofacial dysmorphism very similar to that found in the full 10p-trisomy syndrome. Other features usually found in full 10p trisomy, however, such as failure to thrive and internal malformations, were ab