De novo deletion of chromosome 18q in a baby with harlequin ichthyosis

被引：8

作者：

Stewart, H

Smith, PT

Gaunt, L

Moore, L

Tarpey, P

Andrew, S

Dady, I

Rifkin, R

Clayton-Smith, J

机构：

[1] Churchill Hosp, Dept Med Genet, Oxford OX3 7LJ, England

[2] St Marys Hosp, NW Reg Cytogenet Serv, Manchester M13 0JH, Lancs, England

[3] Manchester Royal Infirm, Dept Histopathol, Directorate Lab Med, Manchester M13 9WL, Lancs, England

[4] Hope Hosp, Dept Histopathol, Manchester, Lancs, England

[5] St Marys Hosp, Reg Neonatal Unit, Manchester M13 0JH, Lancs, England

[6] Furness Gen Hosp, Dept Paediat, Barrow, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 102卷 / 04期

关键词：

harlequin ichthyosis; chromosome; 18q;

D O I：

10.1002/ajmg.1506

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Harlequin ichthyosis, (MIM 242500), is a rare, autosomal recessive skin disorder due to an inborn error of epidermal keratinization. The gene for this condition has not been localized. We present a case of HI in which there was a de novo deletion of chromosome 18q: the karyotype was 46, XY, del(18)(q21.3). We postulate that the gene for HI may lie at, or distal to 18q21.3 and that the deletion observed in this case may have unmasked this autosomal recessive disorder. (C) 2001 Wiley-Liss, Inc.

引用

页码：342 / 345

页数：4

共 50 条

[41] Prenatal diagnosis of de novo terminal deletion of chromosome 7q
Chen, CP
Chern, SR
Chang, TY
Tzen, CY
Lee, CC
Chen, WL
Lee, MS
Wang, WS
PRENATAL DIAGNOSIS, 2003, 23 (05) : 375 - 379
[42] Expanding the Neuroradiological Phenotype of 18q Deletion Syndrome
Gicchino, Maria Francesca
Piluso, Giulio
Giugliano, Teresa
Cirillo, Mario
Olivieri, Alma Nunzia
Santoro, Claudia
INDIAN PEDIATRICS, 2021, 58 (12) : 1187 - 1188
[43] A case with de novo interstitial deletion of chromosome 7q21.1-q22
Manguoglu, E
Berker-Karaüzüm, S
Baumer, A
Mihçi, E
Taçoy, S
Lüleci, G
Schinzel, A
GENETIC COUNSELING, 2005, 16 (02): : 155 - 159
[44] A case of de novo interstitial deletion of chromosome 5(q33q34)
Giltay, JC
GerssenSchoorl, KBJ
Luitse, GHJ
Dauwerse, HG
CLINICAL GENETICS, 1997, 52 (03) : 173 - 176
[45] Myelination in children with partial deletions of chromosome 18q
Lancaster, JL
Cody, JD
Andrews, T
Hardies, LJ
Hale, DE
Fox, PT
AMERICAN JOURNAL OF NEURORADIOLOGY, 2005, 26 (03) : 447 - 454
[46] DISTAL 18Q DELETION WITHOUT CLINICAL FINDINGS OF 18Q- SYNDROME
QAZI, QH
MADAHAR, C
ALVI, S
MCGANN, B
ANNALES DE GENETIQUE, 1980, 23 (01): : 60 - 62
[47] De novo Partial Trisomy 18p and Partial Monosomy 18q in a Patient with Anorectal Malformation
Bartels, E.
Draaken, M.
Kazmierczak, B.
Spranger, S.
Schramm, C.
Baudisch, F.
Noethen, M. M.
Schmiedeke, E.
Ludwig, M.
Reutter, H.
CYTOGENETIC AND GENOME RESEARCH, 2011, 134 (03) : 243 - 248
[48] Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency
Hogendorf, Anna
Lipska-Zietkiewicz, Beata S.
Szadkowska, Agnieszka
Borowiec, Maciej
Koczkowska, Magdalena
Trzonkowski, Piotr
Drozdz, Izabela
Wyka, Krystyna
Limon, Janusz
Mlynarski, Wojciech
PEDIATRIC DIABETES, 2016, 17 (02) : 153 - 159
[49] The endocrine profile of individuals with chromosome 18q deletions
Hale, DE
Schaub, RL
Cody, JD
PEDIATRIC RESEARCH, 2003, 53 (04) : 152A - 152A
[50] Adult–onset seizure disorder in the 18q deletion syndrome
N. Adab
A. J. Larner
Journal of Neurology, 2006, 253 : 527 - 528

← 1 2 3 4 5 →