MULTIPLE CRANIOFACIAL ANOMALIES ASSOCIATED WITH AN INTERSTITIAL DELETION OF CHROMOSOME 1(Q21-GREATER-THAN-Q25)

被引：13
作者：
LEICHTMAN, LG [1 ]
STRUM, D [1 ]
BROTHMAN, AR [1 ]
机构：
[1] PORTSMOUTH GEN HOSP,DEPT PATHOL,PORTSMOUTH,VA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 06期
关键词：
DEL(1Q); MULTIPLE CONGENITAL ANOMALIES; PRENATAL DIAGNOSIS;
D O I：
10.1002/ajmg.1320450604
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We present a patient with an interstitial deletion of the chromosome 1q21->q25 that was diagnosed by amniocentesis. Significant malformations included: microbrachycephaly, bilateral cleft lip and palate, micrognathia, short neck, and athyroidia. The autopsy results demonstrate an overlap with several other postnatally ascertained patients and document the phenotype prenatally.
引用
收藏
页码：677 / 678
页数：2
相关论文
共 13 条
  • [1] INTERSTITIAL DELETION OF 4(Q21Q25) IN A LIVEBORN MALE
    ROSE, NC
    SCHNEIDER, A
    MCDONALDMCGINN, DM
    CASERTA, C
    EMANUEL, BS
    ZACKAI, EH
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 40 (01): : 77 - 79
  • [2] Detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome
    Chen, Chih-Ping
    Huang, Jian-Pei
    Wu, Fang-Tzu
    Wu, Peih-Shan
    Pan, Yen-Ting
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2024, 63 (06): : 918 - 921
  • [3] Cardiovascular Anomalies Associated With Chromosome 22q11.2 Deletion Syndrome
    Momma, Kazuo
    AMERICAN JOURNAL OF CARDIOLOGY, 2010, 105 (11) : 1617 - 1624
  • [4] INTERSTITIAL DELETION OF CHROMOSOME 1 DEL (1) (Q32 Q42) - CASE-REPORT AND REVIEW OF THE LITERATURE
    SARDA, P
    LEFORT, G
    TAVIAUX, S
    HUMEAU, C
    RIEU, D
    CLINICAL GENETICS, 1992, 41 (01) : 25 - 27
  • [5] A CHILD WITH MULTIPLE CONGENITAL-ANOMALIES AND KARYOTYPE-46,XY,DEL(14)(Q31Q32.3) - FURTHER DELINEATION OF CHROMOSOME 14 INTERSTITIAL DELETION SYNDROME
    GORSKI, JL
    UHLMANN, WR
    GLOVER, TW
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (04): : 471 - 474
  • [6] A DISTINCT MULTIPLE CONGENITAL-ANOMALIES SYNDROME-ASSOCIATED WITH DISTAL 5Q DELETION (Q35.1QTER)
    KLECZKOWSKA, A
    FRYNS, JP
    VANDENBERGHE, H
    ANNALES DE GENETIQUE, 1993, 36 (02): : 126 - 128
  • [7] Molecular cytogenetic analysis of a de novo 5q31q33 deletion associated multiple congenital anomalies: Case report
    Kramer, RL
    Feldman, B
    Ebrahim, SAD
    Kasperski, SB
    Johnson, MP
    Evans, MI
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 82 (02): : 143 - 145
  • [8] Heterozygous deletion of 10q24.31-q24.33– a new syndrome associated with multiple congenital anomalies: case report and literature review
    Anastasiia A. Buianova
    Yulia S. Lashkova
    Tatiana V. Kulichenko
    Ivan S. Kuznetsov
    Artem A. Ivanov
    Olga P. Parshina
    Oleg N. Suchalko
    Svetlana S. Vakhlyarskaya
    Dmitriy O. Korostin
    Neurological Research and Practice, 7 (1):
  • [9] Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3-q44 deletion in a fetus associated with ventriculomegaly on prenatal ultrasound
    Chen, Chih-Ping
    Ko, Tsang-Ming
    Wang, Liang-Kai
    Chern, Schu-Rern
    Wu, Peih-Shan
    Chen, Shin-Wen
    Wu, Fang-Tzu
    Chen, Yun-Yi
    Chen, Wen-Lin
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2020, 59 (04): : 598 - 603
  • [10] A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization
    Qingwei Qi
    Xiya Zhou
    Yulin Jiang
    Na Hao
    Jing Zhou
    Liang Zhang
    Molecular Cytogenetics, 6
12