Ophthalmic Features in a Dysmorphic Boy with Chromosome 4q Deletion and Duplication

被引：3

作者：

Parentin, Fulvio ^{[1
]}

Fabretto, Antonella ^{[2
]}

Benussi, Daniela Gambel ^{[2
]}

Petix, Vincenzo ^{[2
]}

Marchetti, Federico ^{[3
]}

Dalpra, Leda ^{[4
]}

Redaelli, Serena ^{[4
]}

Pensiero, Stefano ^{[1
]}

Pecile, Vanna ^{[2
]}

机构：

[1] Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Dept Surg, Ophthalmol Unit, Trieste, Italy

[2] Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Dept Genet, Trieste, Italy

[3] Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Dept Pediat, Trieste, Italy

[4] Univ Milano Bicocca, Dept Neurosci & Biomed Technol, Monza, Italy

来源：

OPHTHALMIC GENETICS | 2009年 / 30卷 / 02期

关键词：

4q; deletion; duplication; ophthalmoplegia; optic nerve; hypoplasia;

D O I：

10.1080/13816810802592559

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The 4q deletion syndrome shows varying phenotype, ranging from severe and complex malformations, unconformable with life, to more specific findings, as genitourinary, gastrointestinal and cardiac malformations, cleft palate,microcephaly, hypertelorism and abnormal ears and limbs. Strabismus, nystagmus, ophthalmoplegia, and optic nerve anomalies have been rarely described in literature. We report an original case of simultaneous deletion and duplication of chromosome 4q, confirmed by SNPs-array analysis of DNA, and characterized by a previously unreported association between optic nerve hypoplasia and progressive external ophthalmoplegia.

引用

页码：103 / 105

页数：3

共 50 条

[1] Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features
Mancini, T. I.
Oliveira, M. M.
Dutra, A. R. N.
Perez, A. B. A.
Minillo, R. M.
Takeno, S. S.
Melaragno, M. I.
MOLECULAR SYNDROMOLOGY, 2012, 3 (01) : 39 - 43
[2] CHILD WITH DELETION OF 4Q AND DUPLICATION OF 1Q
WADE, J
MORGAN, T
ALLANSON, J
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 33 (04): : 553 - 554
[3] TERMINAL DELETION 4Q IN A SEVERELY RETARDED BOY
DEMICHELENA, MI
CAMPOS, PJ
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 33 (02): : 228 - 230
[4] Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features
Khalifa, Ola A.
Walter, Claudia U.
Rahbeeni, Z. A.
Verloes, A.
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (02) : 173 - 176
[5] Chromosome 4q Deletion Syndrome: Craniofacial Characteristics Associated With Monosomy of the Long Arm of Chromosome 4q
Markiewicz, Michael R.
Verschueren, David
Assael, Leon A.
CLEFT PALATE-CRANIOFACIAL JOURNAL, 2010, 47 (05): : 518 - 522
[6] Deletion mapping of chromosome 4q in hepatocellular carcinoma
Piao, Z
Park, C
Park, JH
Kim, H
INTERNATIONAL JOURNAL OF CANCER, 1998, 79 (04) : 356 - 360
[7] INTERSTITIAL DELETION OF CHROMOSOME 4Q DIAGNOSED PRENATALLY
CAMPBELL, JM
WILLIAMS, J
BATCUP, G
JOURNAL OF MEDICAL GENETICS, 1986, 23 (04) : 366 - 368
[8] Mandibular distraction in the setting of chromosome 4q deletion
Taub, Peter J.
Wolfeld, Michael
Cohen-Pfeffer, Jessica
Mehta, Lakshmi
JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY, 2012, 65 (04): : E95 - E98
[9] Duplication of chromosome 4q: Renal pathology of two siblings
Otsuka, T
Fujinaka, H
Imamura, M
Tanaka, Y
Hayakawa, H
Tomizawa, S
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 134A (03) : 330 - 333
[10] Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features
Traub, Eric S.
Sheppard, Sarah E.
Dori, Yoav
Burns, Katelyn D.
Zackai, Elaine H.
Ware, Stephanie M.
Landis, Benjamin J.
Li, Dong
Weaver, David D.
CLINICAL DYSMORPHOLOGY, 2021, 30 (02) : 89 - 92

← 1 2 3 4 5 →