INTERSTITIAL DELETION OF 4(Q21Q25) IN A LIVEBORN MALE

被引：17

作者：

ROSE, NC

SCHNEIDER, A

MCDONALDMCGINN, DM

CASERTA, C

EMANUEL, BS

ZACKAI, EH

机构：

[1] HAHNEMANN UNIV,DEPT PEDIAT,PHILADELPHIA,PA 19102

[2] CHILDRENS HOSP,DEPT CYTOGENET,PHILADELPHIA,PA 19104

[3] CHILDRENS HOSP,DEPT CLIN GENET,PHILADELPHIA,PA 19104

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 01期

关键词：

4Q DELETION; MULTIPLE CONGENITAL ANOMALIES; INTERSTITIAL DELETION; 4Q; CHROMOSOME 4 (HUMAN);

D O I：

10.1002/ajmg.1320400115

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a liveborn male with a de novo deletion of 4(q2lq25). The findings in this infant are compared with those of other 4q interstitial deletion patients with similar breakpoints. Given the reproducible findings including skull asymmetry, cardiac defects, renal cysts, "butterfly" vertebrae, as well as a particular dysmorphic face with developmental delay, there is evidence for an interstitial 4q deletion syndrome.

引用

页码：77 / 79

页数：3

共 50 条

[31] Molecular Characterization of a Patient With an Interstitial 1q Deletion [del(1)(q24.1q25.3)] and Distinctive Skeletal Abnormalities
Descartes, Maria
Hain, Julie Zenger
Conklin, Michael
Franklin, Judy
Mikhail, Fady M.
Lachman, Ralph S.
Nolet, Serge
Messiaen, Ludwine M.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (22) : 2937 - 2943
[32] Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1 → q31.1)
Chen, Chih-Ping
Chang, Shing-Jyh
Chern, Schu-Rern
Wu, Peih-Shan
Chen, Yu-Ting
Su, Jun-Wei
Chen, Wen-Lin
Wang, Wayseen
GENE, 2013, 521 (02) : 311 - 315
[33] Interstitial Deletion of 18q: Comparative Genomic Hybridization Array Analysis of 46, XX,del(18)(q21.2.q21.33)
Kato, Zenichiro
Morimoto, Wataru
Kimura, Takeshi
Matsushima, Akihiro
Kondo, Naomi
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2010, 88 (02) : 132 - 135
[34] A new case of rare proximal 3q13 interstitial deletion
Lovrecic, Luca
Rudolf, Gorazd
Veble, Alenka
Peterlin, Borut
CENTRAL EUROPEAN JOURNAL OF MEDICINE, 2011, 6 (05): : 625 - 630
[35] 2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay
Rashidi-Nezhad, Ali
Parvaneh, Nima
Farzanfar, Farideh
Azimi, Cyrus
Harewood, Louise
Akrami, Seyed Mohammad
Reymond, Alexandre
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2012, 55 (03) : 203 - 210
[36] Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event
Genesio, Rita
Ronga, Valentina
Castelluccio, Pia
Fioretti, Gennaro
Mormile, Angela
Leone, Graziella
Conti, Anna
Cavaliere, Maria Luigia
Nitsch, Lucio
MOLECULAR CYTOGENETICS, 2013, 6
[37] Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review
Minotti, Chiara
Graziani, Ludovico
Sallicandro, Ester
Digilio, Maria Cristina
Falasca, Roberto
Alesi, Viola
Novelli, Giuseppe
Dentici, Maria Lisa
Loddo, Sara
Novelli, Antonio
FRONTIERS IN GENETICS, 2024, 14
[38] Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome
Kleefstra, T
Koolen, DA
Nihesen, WM
de Leeuw, N
Hamel, BCJ
Veltman, JA
Sistermans, EA
van Bokhoven, H
van Ravenswaay, C
de Vries, BBA
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (06) : 618 - 623
[39] De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature
Kurt Colak, Fatma
Eyerci, Nilnur
Lafci, Naz Guleray
CLINICAL DYSMORPHOLOGY, 2022, 31 (04) : 174 - 180
[40] A De novo Interstitial Deletion of 7q31.2q31.31 Identified in a Girl With Developmental Delay and Hearing Loss
Zhao, Jianhua
Noon, Sarah E.
Krantz, Ian D.
Wu, Yaning
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2016, 172 (02) : 102 - 108

← 1 2 3 4 5 →