A Case of 2q-Syndrome 46, XX, del (2) (q33q35)
Journal of the Korean Society of Neonatology
;
: 64-67, 2000.
Article
Dans Coréen
| WPRIM
| ID: wpr-202534
ABSTRACT
A long arm deletion of chromosome 2 is very rarely reported. Particular deletion uniformly resulted in developmental delays, craniofacial changes, and occasionally resulted in microcephaly, low set ears, and hand and foot abnormalities. We experienced a case of partial monosomy 2 in a 5-months-old girl, who showed low set ears, hypertelorism, low nasal bridges, small mouth, cleft palate, inguinal hernia. Chromosome analysis on a G banding with high resolution showed a deletion of the long arm of chromosome 2. Her karyotype was designated as 46, XX, del (2) (q33q35). A brief review of the literature is also presented.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Bras
/
Chromosomes humains de la paire 2
/
Aberrations des chromosomes
/
Délétion de segment de chromosome
/
Fente palatine
/
Oreille
/
Caryotype
/
Pied
/
Main
/
Hernie inguinale
Limites du sujet:
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Journal of the Korean Society of Neonatology
Année:
2000
Type:
Article
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