A Case of Partial Trisomy of 10q and Partial Monosomy of 6p Resulting from Maternal t(6;10) (p23;q24)

被引：0

作者：

Sabnis, Anjali Satyen ^{[1
,2
]}

Pais, Anurita S. ^{[3
]}

Pradhan, Gauri ^{[4
]}

机构：

[1] MGM Med Coll, Dept Anat, Mumbai 410209, Maharashtra, India

[2] Hosp Kamothe Navi, Mumbai 410209, Maharashtra, India

[3] SRL Diagnost Goregaon, Dept Cytogenet, Sect Head, Mumbai, Maharashtra, India

[4] Metropolis Hlthcare Ltd, Dept Med Genet, Mumbai, Maharashtra, India

来源：

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH | 2021年 / 15卷 / 08期

关键词：

Autosomal balanced translocation; Chromosomal analysis; Developmental delay; Karyotyping; TRANSLOCATIONS; DELETION; COUPLES;

D O I：

10.7860/JCDR/2021/50121.15274

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Chromosomal analysis is practiced routinely since long time in congenital malformations to find out structural and or numerical chromosomal aberrations. Translocation is one of the structural chromosomal aberrations where exchange of genetic material between the chromosomes is seen because of two breakpoints. On the basis of involvement of type of chromosome, two different types of translocation are defined. A case of two-year-old girl child with the history of developmental delay, generalised hypotonia and recurrent infections was reported whose cytogenetic analysis showed additional genetic material on 'p' arm of one chromosome 6. To find out the additional genetic material, parental chromosomal study was done which revealed balanced translocation between 'q' arm of chromosome 10 and 'p' arm of chromosome 6 and normal chromosomal pattern in father. Balanced translocation in mother gave rise to formation of derivative chromosome 6 which was transmitted to daughter causing partial trisomy of 10q and partial monosomy of 6p. This gain and loss of genetic material could be the cause of phenotypic features. In the current case, karyotyping was an investigation of choice and offering genetic counselling regarding prenatal diagnosis in future pregnancy was a thoughtful step.

引用

页码：GD1 / GD3

页数：3

共 30 条

[21] Two Novel Familial Balanced Trans locations t(8;11)(p23;q21) and t(6;16)(q26;p12) Implicated in Recurrent Spontaneous Abortion [J].

Keify, Fatemeh ;

Zhiyan, Narges ;

Mirzaei, Farzaneh ;

Tootian, Semiramis ;

Ghazaey, Saeedeh ;

Abbaszadegan, Mohammad R. .

ARCHIVES OF IRANIAN MEDICINE, 2012, 15 (04) :249-252

[22] Prenatal diagnosis of partial trisomy 16p (16p12.2 → pter) and partial monosomy 22q (22q13.31 → qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester [J].

Chen, Chih-Ping ;

Ko, Tsang-Ming ;

Su, Yi-Ning ;

Hsu, Chin-Yuan ;

Chen, Yi-Yung ;

Su, Jun-Wei ;

Chen, Wen-Lin ;

Pan, Chen-Wen ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (01) :129-133

[23] Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement [J].

Manolakos, E. ;

Vetro, A. ;

Papadopoulou, E. ;

Kefalas, K. ;

Lagou, M. ;

Thomaidis, L. ;

Peitsidis, P. ;

Sifakis, S. ;

Divane, A. ;

Ziegler, M. ;

Liehr, T. ;

Zuffardi, O. ;

Papoulidis, I. .

CYTOGENETIC AND GENOME RESEARCH, 2013, 140 (01) :12-20

[24] MLL/SEPTIN6 chimeric transcript from inv ins(X;11 )(q24;q23q13) in acute monocytic leukemia:: Report of a case and review of the literature [J].

Kim, HJ ;

Ki, CS ;

Park, Q ;

Koo, HH ;

Yoo, KH ;

Kim, EJ ;

Kim, SH .

GENES CHROMOSOMES & CANCER, 2003, 38 (01) :8-12

[25] Partial Monosomy 8p/Trisomy 8q in a Newborn Infant Due to a Maternal Three-Way Translocation: Clinical and Cytogenetic Comparison With San Luis Valley Syndrome [J].

Stevens, Servi J. C. ;

Smeets, Eric E. J. G. L. ;

van den Broek, Naomi ;

Droog, Richard P. ;

Breukels, Mijke A. ;

Albrechts, Jozefa C. M. ;

Rauh-van Delst, Marion ;

Traa, Erik ;

Lennarts, Melanie ;

Janssen, Jannie W. H. ;

Engelen, John J. M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (08) :2123-2126

[26] A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation [J].

Argyriou, Loukas ;

Hiort, Olaf ;

Meinecke, Peter ;

Wuensch, Lutz ;

Volleth, Marianne ;

Hinrichs, Frauke ;

Caliebe, Almuth ;

Gillessen-Kaesbach, Gabriele .

CLINICAL DYSMORPHOLOGY, 2010, 19 (04) :190-194

[27] Delineation variable genotype/phenotype correlations of 6q27 terminal deletion derived from dic(6;18)(q27;p10) [J].

Zhou, Lili ;

Chen, Chong ;

Li, Huanzheng ;

Chen, Yunying ;

Xu, Xueqin ;

Lin, Xiaoling ;

Tang, Shaohua .

MOLECULAR CYTOGENETICS, 2014, 7

[28] Report Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result [J].

Chen, Chih-Ping ;

Ko, Tsang-Ming ;

Wang, Liang-Kai ;

Chern, Schu-Rern ;

Wu, Peih-Shan ;

Chen, Shin-Wen ;

Wu, Fang-Tzu ;

Chen, Li-Feng ;

Wang, Wayseen .

TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2021, 60 (04) :775-777

[29] Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation [J].

Fan, Judith ;

Senaratne, T. Niroshini ;

Liu, Jason Y. ;

Bina, Michelle ;

Martinez-Agosto, Julian A. ;

Quintero-Rivera, Fabiola ;

Wang, Jessica J. .

BMC MEDICAL GENOMICS, 2023, 16 (01)

[30] Breakpoints Identification of a Balanced Complex Chromosome Rearrangement Case: 46,XX, t(6;15;10;9)(q13;q15;p11.2;q34.3) ins(9;8)(q22.33;q21.1q21.3) [J].

Li, Bohong ;

Li, Suli ;

Luo, Fuwei ;

Yang, Chuanchun ;

Xie, Jiansheng .

CLINICAL LABORATORY, 2021, 67 (04) :1095-1099

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