| Full text | |
| Author(s): |
Lustosa-Mendes, Elaine
;
dos Santos, Ana Paula
;
Viguetti-Campos, Nilma Lucia
;
Vieira, Tarsis Paiva
;
Gil-da-Silva-Lopes, Vera Lucia
Total Authors: 5
|
| Document type: | Review article |
| Source: | AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 173, n. 1, p. 143-150, JAN 2017. |
| Web of Science Citations: | 5 |
| Abstract | |
We report a boy carrying a recombinant chromosome 18, with terminal deletion of 10.8Mb from 18p11.32 to 18p11.21 and a terminal duplication of 22.8Mb from 18q21.31 to 18q23, resulting from a maternal pericentric inversion of the chromosome 18. He presented with poor growth, developmental delay, facial dysmorphisms, surgically repaired left cleft lip and palate, a mild form of holoprosencephaly characterized by single central incisor and agenesis of the septum pellucidum, and body asymmetry. Based on the systematic review of the literature, we discuss genotype-phenotype correlation and the risk for the recombinants of pericentric inversions of chromosome 18. (C) 2016 Wiley Periodicals, Inc. (AU) | |
| FAPESP's process: | 12/51799-6 - Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts |
| Grantee: | Vera Lúcia Gil da Silva Lopes |
| Support Opportunities: | Research Grants - Research in Public Policies for the National Health Care System (PP-SUS) |