2011, Number 2
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Rev Cub Gen 2011; 5 (2)
49, XXXXY: A seldom frequent karyotype concerning a case.
Pérez EO, Consuegra ME, Reyes ÁF, Rivera HDC, del Monte SE
Language: Spanish
References: 11
Page: 149-152
PDF size: 423.42 Kb.
ABSTRACT
The prevalence of chromosomal alterations at birth is
nearly 1 % and the patients with these anomalies present
multiple dysmorphias and malformation that in some cases
suggest a well-known syndrome. Due to the variability of
the phenotype and the severity of the malformations, they
may correspond to alterations as diverse as the possibilities
of chromosomal reordering. The polysomy 49, XXXXY is
characterized by underweight at birth, microcephaly, cranial-
facial dysmorphia, marked hypogenital development,
visceral and osseous malformation. An 11 year-old crossbreed
male patient, is presented having the characteristics
just mentioned. The case diagnosis was carried out by applying
the clinical method and a karyotype study.
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