Abstract |
We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical findings are compared with those found in previous reports of trisomy 7p. Finally, some general principles for genetic counselling are discussed.
|
Authors | A Delicado, E Escribano, I Lopez Pajares, A Diaz de Bustamante, S Carrasco |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 28
Issue 2
Pg. 126-7
(Feb 1991)
ISSN: 0022-2593 [Print] England |
PMID | 2002483
(Publication Type: Case Reports, Journal Article)
|
Topics |
- Abnormalities, Multiple
(genetics)
- Chromosome Banding
- Chromosome Inversion
- Chromosomes, Human, Pair 7
- Genetic Counseling
- Humans
- Infant, Newborn
- Male
- Monosomy
- Recombination, Genetic
- Risk Factors
- Trisomy
|