A Case of an Addition of Chromosome 9 Short Arm Associated with Multiple Congenital Anomalies
Journal of the Korean Society of Neonatology
;
: 200-206, 2008.
Article
in Korean
| WPRIM
| ID: wpr-28939
ABSTRACT
Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Arm
/
Disorders of Sex Development
/
Cardiomyopathy, Hypertrophic
/
Chromosomes, Human, Pair 9
/
Heterochromatin
/
Chromosomes, Human
/
Craniosynostoses
/
Ductus Arteriosus, Patent
/
Hearing
/
Hernia, Umbilical
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Society of Neonatology
Year:
2008
Type:
Article
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