A Boy With Partial dup(18q)/del(18p) Due to a Maternal Pericentric Inversion: Genotype-Phenotype Correlation and Risk of Recombinant Chromosomes Based on Systematic Review of the Literature

被引：9

作者：

Lustosa-Mendes, Elaine ^{[1
]}

dos Santos, Ana Paula ^{[1
]}

Viguetti-Campos, Nilma Lucia ^{[1
]}

Vieira, Tarsis Paiva ^{[1
]}

Gil-da-Silva-Lopes, Vera Lucia ^{[1
]}

机构：

[1] Univ Campinas Unicamp, Dept Med Genet, Fac Med Sci, Sao Paulo, Brazil

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 01期

基金：

巴西圣保罗研究基金会;

关键词：

recombinant chromosome 18; chromosome 18 pericentric inversion; orofacial cleft; single maxillary central incisor; genotype-phenotype correlation; recurrence; microarray analysis; ABNORMALITIES; DUPLICATION; TRISOMY; 18P; HETEROZYGOTE; MUTATIONS; MONOSOMY; FAMILY;

D O I：

10.1002/ajmg.a.37976

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：143 / 150

页数：8

共 32 条

[1] Molecular screening of the TGIF gene in holoprosencephaly:: identification of two novel mutations
Aguilella, C
Dubourg, C
Attia-Sobol, J
Vigneron, J
Blayau, M
Pasquier, L
Lazaro, L
Odent, S
David, V
[J]. HUMAN GENETICS, 2003, 112 (02) : 131 - 134
[2] ANDREWS T, 1982, ANN GENET-PARIS, V25, P185
[3] Sperm studies in heterozygote inversion carriers: a review
Anton, E
Blanco, J
Egozcue, J
Vidal, F
[J]. CYTOGENETIC AND GENOME RESEARCH, 2005, 111 (3-4) : 297 - 304
[4] PARTIAL 18Q-TRISOMY AND 18P-MONOSOMY RESULTING FROM A MATERNAL PERICENTRIC-INVERSION, INV(18)(P11.2Q21.3)
ASANO, T
IKEUCHI, T
SHINOHARA, T
ENOKIDO, H
HASHIMOTO, K
[J]. JAPANESE JOURNAL OF HUMAN GENETICS, 1991, 36 (03): : 257 - 265
[5] RECOMBINANT CHROMOSOME-18 RESULTING FROM A MATERNAL PERICENTRIC-INVERSION
AYUKAWA, H
TSUKAHARA, M
FUKUDA, M
KONDOH, O
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 50 (04): : 323 - 325
[6] Babaji Prashant, 2014, J Indian Soc Pedod Prev Dent, V32, P68, DOI 10.4103/0970-4388.127063
[7] The trisomy 18 syndrome
Cereda, Anna
Carey, John C.
[J]. ORPHANET JOURNAL OF RARE DISEASES, 2012, 7
[8] CHROMOSOME-ANOMALIES AMONG LIVEBIRTHS
EVANS, HJ
[J]. JOURNAL OF MEDICAL GENETICS, 1977, 14 (05) : 309 - 312
[9] Gardner R.J.M., 2012, CHROMOSOME ABNORMALI, V4th ed.
[10] Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
Gripp, KW
Wotton, D
Edwards, MC
Roessler, E
Ades, L
Meinecke, P
Richieri-Costa, A
Zackai, EH
Massagué, J
Muenke, M
Elledge, SJ
[J]. NATURE GENETICS, 2000, 25 (02) : 205 - 208

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