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Myelodysplastic syndrome and trisomy 14q

โœ Scribed by Paul Tumewu; Gordon Royle


Book ID
119105536
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
208 KB
Volume
64
Category
Article
ISSN
0165-4608

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๐Ÿ“œ SIMILAR VOLUMES


Trisomy 14q in myelodysplastic syndromes
โœ P.H. Pinkerton; Betty London; I.D. Dubรฉ; J.S. Senn ๐Ÿ“‚ Article ๐Ÿ“… 1990 ๐Ÿ› Elsevier Science ๐ŸŒ English โš– 235 KB
The syndrome of partial trisomy 14q
โœ F. Lo Curto; Paola Maraschio; P. Milanesi; Francesca Severi; A. C. Ugazio; Orset ๐Ÿ“‚ Article ๐Ÿ“… 1976 ๐Ÿ› Springer ๐ŸŒ English โš– 616 KB

The case of a 4-month-old male with a de novo partial trisomy for chromosome 14 involving the pl3-+q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral mierophtalmia, high arched palate, and anomalies of hands and fee

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Partial trisomy 14q
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A dysmorphic female born with partial trisomy of the proximal segment of the long arm of chromosome 14 had 47 chromosomes. The extra one was acrocentric, smaller than the D group, and bigger than the G-chromosome group. By GTG banding it was identified as a deleted chromosome 14, the karyotype being