A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases

被引：0
|
作者：
Kececi, Hayriye Nermin [1 ]
Basdemirci, Muserref [2 ]
Caksen, Huseyin [1 ]
机构：
[1] Necmettin Erbakan Univ, Fac Med, Dept Pediat Genet, TR-42080 Meram, Konya, Turkiye
[2] Konya City Hosp, Dept Med Genet, Med Genet, Konya, Turkiye
来源：
CLINICAL DYSMORPHOLOGY | 2024年 / 33卷 / 02期
关键词：
14Q32.33; DELETION;
D O I：
10.1097/MCD.0000000000000492
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：90 / 94
页数：5
相关论文
共 50 条
  • [21] Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome
    Le Meur, N
    Goldenberg, A
    Michel-Adde, C
    Drouin-Garraud, V
    Blaysat, G
    Marret, S
    Abu Amara, S
    Moirot, N
    Joly-Hélas, G
    Mace, B
    Kleinfinger, P
    Saugier-Veber, P
    Frébourg, T
    Rossi, A
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 134A (04) : 439 - 442
  • [22] DELETION OF 14Q INVOLVING IGH GENE IN PATIENTS WITH MULTIPLE MYELOMA
    Balcarkova, J.
    Pika, T.
    Urbankova, H.
    Holzerova, M.
    Scudla, V.
    Bacovky, J.
    Indrak, K.
    Jarosova, M.
    HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2009, 94 : 25 - 25
  • [23] DELETION OF 14Q IN COHORT OF 560 PATIENTS WITH CHRONIC LYMPHOCYTIC LEUKAEMIA
    Dostalova, L.
    Hodslavska, V.
    Sablaturova, T.
    Stoklasova, M.
    Strnkova, A.
    Drevojankova, B.
    Burdova, A.
    Brejcha, M.
    Klodova, D.
    Wrobel, M.
    Brychtova, Y.
    Francova, H.
    Heinzova, V.
    Zivna, J.
    Rytikova, N.
    Bodzasova, C.
    Zuchnicka, J.
    HAEMATOLOGICA, 2013, 98 : 678 - 678
  • [24] An adult patient with a distal interstitial 14q deletion: Clinical report and literature review
    Spruijt, L
    Van der Blij-Philipsen, M
    Engelen, JJM
    Schrander-Stumpel, CTRM
    GENETIC COUNSELING, 2000, 11 (04): : 335 - 340
  • [25] SYNDROME OF PARTIAL TRISOMY 14Q
    CURTO, FL
    MARASCHIO, P
    MILANESI, P
    SEVERI, F
    UGAZIO, AC
    ZUFFARDI, O
    EUROPEAN JOURNAL OF PEDIATRICS, 1976, 123 (04) : 237 - 241
  • [26] TERMINAL DELETION (14)(Q32.3) - A NEW CASE
    TELFORD, N
    THOMSON, DAG
    GRIFFITHS, MJ
    ILETT, S
    WATT, JL
    JOURNAL OF MEDICAL GENETICS, 1990, 27 (04) : 261 - 263
  • [27] Confusing diagnostics of subtelomeric 14q deletion syndrome. Genotype-phenotype correlation and review of the literature
    Krajewska-Walasek, M.
    Gutkowska, A.
    Ciara, E.
    Jezela-Stanek, A.
    Chrzanowska, K.
    CHROMOSOME RESEARCH, 2009, 17 : 36 - 37
  • [28] De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly
    Bruyere, H
    Favre, B
    Douvier, S
    NivelonChevalier, A
    Mugneret, F
    PRENATAL DIAGNOSIS, 1996, 16 (11) : 1059 - 1060
  • [29] A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia
    Ouertani, Ines
    Chaabouni, Myriam
    Turki, Ilhem
    Lelorc'h, Marc
    Attie-Bitach, Tania
    Ben Jemaa, Lamia
    Khouja-Gouider, Neziha
    Chaabouni, Habiba
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2009, 52 (04) : 256 - 259
  • [30] DELETION 14Q (Q22Q23) ASSOCIATED WITH ANOPHTHALMIA, ABSENT PITUITARY, AND OTHER ABNORMALITIES
    BENNETT, CP
    BETTS, DR
    SELLER, MJ
    JOURNAL OF MEDICAL GENETICS, 1991, 28 (04) : 280 - 281
12345