A Case of Bilateral Split Hand and Foot Malformation with Inversion of Chromosome 7
Journal of the Korean Society of Neonatology
;
: 187-192, 1998.
Article
in Korean
| WPRIM
| ID: wpr-179997
ABSTRACT
Split hand and split foot(SHSF) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft resulting in a clawlike appearance of the hands and feets. SHSF is usually inherited in an autosomer dominant fashion. The incidence of SHSF is between 1/10,000 and 1/90,000. Thirteen cases of SHSF and chromosomal aberrations involving 7q21-22 have been described so far in the world. We experienced a case of typical tetramelic SHSF in neonate. Chromosome studies showed a pericentric inversion of chromosome 746,XY,inv(7) (p22q22). Inspection of the extremities and chromosome studies in the parents were normal.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parents
/
Chromosomes, Human, Pair 7
/
Incidence
/
Chromosome Aberrations
/
Extremities
/
Foot
/
Hand
/
Human Development
Type of study:
Incidence study
/
Prognostic study
Limits:
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Society of Neonatology
Year:
1998
Type:
Article
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