PARTIAL TRISOMY 10p12.33 AND PARTIAL MONOSOMY 13q32.1: CASE REPORT AND A LITERATURE REVIEW

被引：0

作者：

Puvabanditsin, S. ^{[1
]}

Garrow, E. ^{[2
]}

Lambert, G. ^{[1
]}

Botti, C. ^{[3
]}

Gowda, S. ^{[1
]}

Kathiravan, S. ^{[1
]}

Brooks, S. S. ^{[3
]}

机构：

[1] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Dept Pediat, New Brunswick, NJ 08903 USA

[2] Suny Downstate Med Ctr, Dept Surg, Brooklyn, NY 11203 USA

[3] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Div Med Genet, New Brunswick, NJ 08903 USA

来源：

GENETIC COUNSELING | 2011年 / 22卷 / 03期

关键词：

Partial trisomy 10p; Partial monosomy 13q32.1; Deletion of chromosome; Holoprosencephaly; Imperforated anus; ambiguous genitalia; CGH microarray; 13Q DELETION SYNDROME; LONG ARM; 10P; PHENOTYPE; DEFINITION; MUTATIONS; PATIENT; REGION; GENE; ZIC2;

D O I：

暂无

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review: We report on a preterm neonate with a deletion of the distal long arm of chromosome 13q32.1 and partial trisomy of the short arm of chromosome 10p12.33. The patient has intrauterine growth retardation, microphthalmia, macrocephaly, holoprosencephaly, patent ductus arteriosus, aortic isthmus hypoplasia, right renal agenesis, imperforate anus, ambiguous genitalia, pleural effusion and vertebral anomaly. Analysis using an oligonucleotide microarray (U-array Cyto6000 array platform (Human Genome build: hg 18) indicated that there was a partial trisomy of chromosome 10(19.5 Mb gain) involving 298 oligonucleotides from 10pter to 10p12.33. and a partial monosomy of chromosome 13(18.3 Mb deleted) involving 313 oligonucleotides from 13q32.1 to 13qter. This is the first report of a patient with partial trisomy 10p12.33 and partial monosomy 13q32.1.

引用

页码：263 / 272

页数：10

共 50 条

[1] PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW
Puvabanditsin, S.
Herrera-Garcia, G.
Gengel, N.
Hussein, K.
February, M.
Mayne, J.
Mehta, R.
GENETIC COUNSELING, 2016, 27 (01): : 35 - 41
[2] Partial Trisomy 15q23 and Partial Monosomy 5p15.32: Case Report and a Literature Review
Puvabanditsin, Surasak
Khan, Imteyaz
Garrow, Eugene
Botti, Christina
Lambert, George
Quan, Michelle
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (12) : 3201 - 3204
[3] PARTIAL MONOSOMY 13Q AND PARTIAL TRISOMY 18P - CASE-REPORT WITH NECROPSY FINDINGS
BENECK, D
GRECO, MA
WOLMAN, SR
MCMORROW, LE
JANSEN, V
CASON, J
JOURNAL OF MEDICAL GENETICS, 1986, 23 (03) : 260 - 263
[4] Partial trisomy 8q and partial monosomy 18p: a case report
Puvabanditsin, S
Garrow, E
Rabi, FA
Titapiwatanakun, R
Kuniyoshi, KM
ANNALES DE GENETIQUE, 2004, 47 (04): : 399 - 403
[5] PARTIAL TRISOMY 3p24.3 AND PARTIAL MONOSOMY 5p51.33: CASE REPORT AND A LITERATURE REVIEW
Puvabanditsin, S.
Memon, N.
Lambert, G.
Cross, G.
El-Khawam, R.
Botti, C.
Balbin, J.
GENETIC COUNSELING, 2013, 24 (01): : 13 - 20
[6] Partial trisomy 2q and partial monosomy 10p in a fetus
Karymee
Mahjoubi, Frouzandeh
Khalegian, M.
Tootian, S.
Akbari, M. T.
CHROMOSOME RESEARCH, 2007, 15 : 253 - 254
[7] Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
Brooks, BP
Meck, JM
Haddad, BR
Bendavid, C
Blain, D
Toretsky, JA
BMC MEDICAL GENETICS, 2006, 7
[8] Partial 10q trisomy with partial 12q monosomy
Mitsufuji, N
Tokuda, S
Nakanoin, H
Yoshioka, H
Sawada, T
ARCHIVES OF DISEASE IN CHILDHOOD, 1997, 77 (06) : 528 - 529
[9] Unbalanced translocation with partial 6p trisomy and partial 11q monosomy: a case report
Sabbatino, MS
Melis, D
Della Casa, R
D'Agostino, A
Cascioli, MC
Parenti, G
RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS, 1998, 24 (05): : 1017 - 1020
[10] Partial trisomy of 7q: Case report and literature review
Scelsa, Barbara
Bedeschi, Francesca Maria
Guerneri, Silvana
Lalatta, Faustina
Introvini, Paola
JOURNAL OF CHILD NEUROLOGY, 2008, 23 (05) : 572 - 579

← 1 2 3 4 5 →