Chromosome 7q Deletion Syndrome 46, XX, del(7)(q34) with Hydronephrosis
Journal of the Korean Society of Neonatology
;
: 217-221, 2005.
Article
in Korean
| WPRIM
| ID: wpr-56292
ABSTRACT
Chromosome 7q deletion, relatively rare syndrome, was first described by de Grouchy in 1969. The most frequent clinical manifestations of a "7q deletion syndrome" include; low birth weight, postnatal growth retardation, mental retardation, developmental delay, microcephaly, congenital heart disease, hypotonia, bulbous nasal tip and abnormal ears. We report a case of 7q deletion syndrome with microcephaly, upslanting palpabral fissure, micrognathia, bulbous nasal tip, developmental delay and hydronephrosis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Infant, Low Birth Weight
/
Ear
/
Heart Defects, Congenital
/
Hydronephrosis
/
Intellectual Disability
/
Microcephaly
/
Muscle Hypotonia
Limits:
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Society of Neonatology
Year:
2005
Type:
Article
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