Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family.
Indian J Pediatr
;
2008 Sep; 75(9): 956-60
Article
in English
| IMSEAR
| ID: sea-79091
ABSTRACT
Partial trisomy 7p with partial monosomy 9p is a rare disorder with only 3 cases reported. Both these abnormalities i.e., partial trisomy 7p and partial monosomy 9p result in distinct clinical phenotypes. However, patients with combined 7p trisomy/9p monosomy present with a phenotype consistent with trisomy 7p. We present a fourth case of trisomy 7p/monosomy 9p with long term follow-up and document the medical complications associated with this disorder. Long term follow-up of patients with chromosome abnormalities provides a unique opportunity to document the medical history and complications associated with such abnormalities.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Phenotype
/
Translocation, Genetic
/
Trisomy
/
Chromosomes, Human, Pair 7
/
Chromosomes, Human, Pair 9
/
Humans
/
Male
/
Developmental Disabilities
/
Child, Preschool
/
Follow-Up Studies
Type of study:
Observational study
/
Prognostic study
/
Risk factors
Language:
English
Journal:
Indian J Pediatr
Year:
2008
Type:
Article
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