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Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27)

✍ Scribed by Harold Chen; Michael Tyrkus; Flossie Cohen; Paul V. Woolley; Kaz Mayeda; Anant Bhogaonker; Ceres E. Espiritu; William Simpson

Book ID
119838468
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
551 KB
Volume
9
Category
Article
ISSN
0009-9163

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Partial trisomy 4q: Two cases resulting
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Partial trisomy of the long arm of chromosome 4 was observed in two related patients, a child aged 2 years and a woman aged 42. Cytogenetic investigation revealed that their chromosome anomalies were due to segregation of a familial balanced translocation t(4;18)(q27;p11). Some clinical and cytogene

Partial distal trisomy 13q resulting fro
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✍ S. Yanagisawa; H. Yokoyama; N. Agena πŸ“‚ Article πŸ“… 1978 πŸ› Springer 🌐 English βš– 469 KB

A female infant with partial trisomy 13, 46,XX,der(5),t(5;13) (p15;q22)mat, for the distal part of the long arm is reported. The clinical and autopsy findings were similar to those of complete trisomy 13, except for harelip and cleft palate, and sloping forehead. Fetal hemoglobin and nuclear appenda