[Trisomy 18 with unusual clinical and chromosome features]. / Trisomia 18 con caratteristiche cliniche e cromosomiche inconsuete.
Pediatr Med Chir
; 17(1): 85-7, 1995.
Article
in It
| MEDLINE
| ID: mdl-7739936
ABSTRACT
The Authors describe a newborn with costal hypoplasia and vertebral malformation, tracheoesophageal fistula, congenital heart disease and closed hands with the second and third finger overlapping. Cytogenetic findings indicated trisomy 18 [47, XX, -1, +der(1), +der(18), t(1;18) (q1.2; p11.3)] inherited by mother's carried balanced translocation 1q/18.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ribs
/
Spine
/
Trisomy
/
Abnormalities, Multiple
/
Chromosomes, Human, Pair 18
/
Hand Deformities, Congenital
/
Chromosome Aberrations
/
Chromosome Disorders
/
Heart Defects, Congenital
Limits:
Female
/
Humans
/
Newborn
Language:
It
Journal:
Pediatr Med Chir
Year:
1995
Document type:
Article
Affiliation country:
Italia