2012, Number 2
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Rev Cub Gen 2012; 6 (2)
Partial 6p monosomy: a case presentation
Licourt OD, Orraca CM, Labrador RE, Nuñez MPS, Díaz HIA
Language: Spanish
References: 10
Page: 50-53
PDF size: 519.43 Kb.
ABSTRACT
Chromosomal alterations are one of the main causes of major malformations in newborns. Deletion or partial monosomy of the 6p chromosome is infrequent, but the severity of these alterations is greatly variable, depending on the affected chromosome, the loss or gain of genetic material and the context of the rest of hereditary material in which it is manifested. Most of these patients show a retarded development and an associated phenotypical spectrum that includes craniofacial alterations and limb anomalies, cardiovascular and Central Nervous System malformations, as well as ocular and hearing anomalies. Due to the low frequency this chromosomal alteration occurs and the scarcity of published reports, the case of a child with a partial 6p chromosome monosomy is presented here.
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