Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)—a case report and a family study

Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth. The genetic analysis revealed 2 different unbalanced translocations t(10;22)(q26.13;q13.32) of genetic material between the long arms of chromosomes 10 and 22, deriving from a maternal balanced translocation. Consequences of the unbalanced translocation were the simultaneous partial monosomy of 10q26.13 to 10qter and partial trisomy of 22q13.32 to 22qter in 2 patients and the simultaneous trisomy distal q10 and monosomy distal q22 in 1 patient, respectively. To the best of our knowledge, we here describe for the first time a causal association between an unbalanced translocation t(10;22) affecting the long arms of both chromosomes 10 and 22 and a very severe neurodevelopmental delay in 3 siblings.

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Partial Trisomy 1q21-qter and Partial Monosomy 7q21-qter Due to a Derivative Chromosome 7 in Myelodysplastic Syndrome Associated with Squamous Cell Carcinoma: Case Report

Case Reports in Clinical Medicine ◽

10.4236/crcm.2016.512066 ◽

2016 ◽

Vol 05 (12) ◽

pp. 518-527

Author(s):

Abdulsamad Wafa ◽

Faten Moassass ◽

Thomas Liehr ◽

Abdulmunim Aljapawe ◽

Walid Al Achkar

Keyword(s):

Squamous Cell Carcinoma ◽

Case Report ◽

Myelodysplastic Syndrome ◽

Cell Carcinoma ◽

Squamous Cell ◽

Partial Trisomy ◽

Chromosome 7 ◽

Derivative Chromosome ◽

Partial Monosomy ◽

Squamous Cell Carcinoma Case

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Prenatal ultrasonographic manifestations of partial trisomy 12q(12q24.2→qter) and partial monosomy 2q (2q37.3→qter)

Vojnosanitetski pregled ◽

10.2298/vsp170316136j ◽

2020 ◽

Vol 77 (7) ◽

pp. 754-757

Author(s):

Ivana Joksic ◽

Thomas Liehr ◽

Mina Toljic ◽

Natasa Karadzov-Orlic ◽

Zagorka Milovanovic ◽

...

Keyword(s):

Umbilical Artery ◽

Partial Trisomy ◽

First Trimester ◽

Derivative Chromosome ◽

Chromosome 2 ◽

Balanced Translocation ◽

Single Umbilical Artery ◽

Partial Monosomy ◽

Cardiac Ventricle ◽

Cytogenetic Analyses

Introduction. Partial trisomy of chromosome 12 long arm is rare condition with significant clinical impact and is usually diagnosed postnatally. Case report. We present prenatal sonographic findings and molecular cytogenetic characterization of partial trisomy 12q and partial monosomy 2q in two consecutive pregnancies of a healthy non-consanguineous couple. A 35-year-old pregnant woman G3P1A1 was referred to genetic counseling due to sonographic anomalies detected in the fetus. First trimester ultrasound examination revealed hyperechogenic focus in the left cardiac ventricle, single umbilical artery, hyperechogenic bowel and unilateral clubfoot with knee joint ankylosis. Previous pregnancy of the couple was terminated at 26th gestation weeks due to multiple fetal anomalies: bilateral ventriculomegaly, corpus callosum hypoplasia, single umbilical artery and clubfoot. In G3P1A1, amniocentesis was performed and cytogenetic analyses revealed a derivative chromosome 2. Subsequent cytogenetic analyses of parental lymphocytes showed that paternal karyotype was normal, while maternal karyotype showed a der(2). Metaphase fluorescence in situ hybridization (FISH) studies demonstrated partial trisomy 12q24.2?12qter and partial monosomy 2q37.3?2qter in the fetus, resulting from an unbalanced segregation of a maternal balanced translocation t(2;12)(q37.3;q24.2). To date, this is the first such prenatally detected case. Literature search revealed three more cases of prenatally detected partial trisomy 12q and anomalies described were consistent with ones detected in present case. Our findings contribute to further clinical delineation of partial trisomy 12q. Conclusion. Prenatal detection of single umbilical artery, clubfoot, arthogryposis and ventriculomegaly should alert suspicion to chromosome 12q aberrations.

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Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.

Journal of Medical Genetics ◽

10.1136/jmg.23.3.260 ◽

1986 ◽

Vol 23 (3) ◽

pp. 260-263 ◽

Cited By ~ 2

Author(s):

D Beneck ◽

M A Greco ◽

S R Wolman ◽

L E McMorrow ◽

V Jansen ◽

...

Keyword(s):

Case Report ◽

Partial Trisomy ◽

Partial Monosomy ◽

Trisomy 18P

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Familial Translocation t(5;15)(p14.2;q26.2) Causing a Mirror Combination of Several Known Genetic Conditions

Journal of Pediatric Neurology ◽

10.1055/s-0037-1603996 ◽

2017 ◽

Vol 15 (06) ◽

pp. 332-337

Author(s):

Yael Goldberg ◽

Racheli Berger ◽

Amir Peleg ◽

Lena Sagi-Dain

Keyword(s):

Clinical Features ◽

Partial Trisomy ◽

Balanced Translocation ◽

Partial Monosomy ◽

Familial Translocation ◽

Partial Monosomy 5P

AbstractTwo siblings with an unbalanced cytogenetic composition are described: a brother with partial trisomy 5p and distal 15q microdeletion, and a sister with partial monosomy 5p and distal 15q microduplication, resulting from a familial balanced translocation 46,XY; t(5;15)(p14.2;q26.2). To our best knowledge, there are no previous clinical and cytogenetic reports in the literature describing a family with concomitant presence of such a unique mirror combination. Clinical features of pure imbalances and the effects of their combination are discussed.

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