Unbalanced Translocation Involving Partial Trisomy 9p and Partial Monosomy Yq With Neurodevelopmental Delays

Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, —17, +t (17p; lOq) are described. From an analysis of the phenotypes of these patients and others reported with lOq trisomy, we propose that the trisomy 1Oq 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthamia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 1Oq, are believed to be expressions of a partial monosomy of 17p.

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A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation

Ophthalmic Genetics ◽

10.1080/13816810.2020.1744019 ◽

2020 ◽

Vol 41 (2) ◽

pp. 175-182

Author(s):

Katsuhiro Hosono ◽

Kazuhide Kawase ◽

Kentaro Kurata ◽

Yusuke Niimi ◽

Hirotomo Saitsu ◽

...

Keyword(s):

Partial Trisomy ◽

Unbalanced Translocation ◽

Partial Monosomy

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Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy

Cytogenetic and Genome Research ◽

10.1159/000471501 ◽

2017 ◽

Vol 151 (4) ◽

pp. 171-178 ◽

Cited By ~ 5

Author(s):

Emanuele G. Coci ◽

Andrea Auhuber ◽

Anna Langenbach ◽

Kristin Mrasek ◽

Joachim Riedel ◽

...

Keyword(s):

Genetic Material ◽

Partial Trisomy ◽

The Body ◽

Neuropsychological Impairment ◽

Unbalanced Translocation ◽

Speech Impairment ◽

Balanced Translocation ◽

Partial Monosomy ◽

Neurodevelopmental Delay ◽

Genetic Assessment

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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Fetal cystic hygroma associated with terminal 2p25.1 duplication and terminal 3p25.3 deletion: Cytogenetic, fluorescent in situ hybridization and microarray familial characterization of two different chromosomal structural rearrangements

Balkan Journal of Medical Genetics ◽

10.2478/bjmg-2020-0023 ◽

2020 ◽

Vol 23 (2) ◽

pp. 79-86

Author(s):

F Stipoljev ◽

M Barbalic ◽

M Logara ◽

A Vicic ◽

M Vulic ◽

...

Keyword(s):

Late Pregnancy ◽

Partial Trisomy ◽

Cystic Hygroma ◽

Fish Analysis ◽

Unbalanced Translocation ◽

Balanced Translocation ◽

Partial Monosomy ◽

Sonographic Examination ◽

Gene Map

Abstract We report a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p, resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. Parents were non consanguineous Caucasians, with familial history of recurrent miscarriages on the father’s side. Detailed sonographic examination of the fetus showed a septated cystic hygroma measuring 6 mm at 13 weeks’ gestation. Karyotyping and fluorescent in situ hybridization (FISH) analysis of cultured amniotic fluid cells revealed an unbalanced translocation der(3)t(2;3)(p25.1; p25.3) and apparently balanced inv(3)(p13p25.3) in a fetus. Parental cytogenetic evaluation using karyotyping and FISH analysis showed the presence of both a balanced translocation and a paracentric inversion in father t(2;3) (p25.1;p25.3) inv(3)(p13p25.3). Microarray analysis showed a 11.6 Mb deletion at 3p26.3-p25.3 and duplication of 10.5 Mb at the 2p25.3-p25 region. The duplicated region at 2p25.1p25.3 contains 45 different genes, where 12 are reported as OMIM morbid genes with different phenotypical implications. The deleted region at 3p26.3-p25.3 contains 65 genes, out of which 27 are OMIM genes. Three of these (CNTN4, SETD5 and VHL) were curated by Clingene Dosage Gene Map and were given a high haplo-insufficiency score. Genes affected by the unbalanced translocation could have contributed to some specific phenotypic changes of the fetus in late pregnancy. The application of different cytogenetic methods was essential in our case, allowing the detection of different types of structural chromosomal aberrations and more thorough genetic counseling for future pregnancies.

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Distal Trisomy of 10q with Distal Monosomy of 15q Due to a Paternal Translocation

Journal of International Medical Research ◽

10.1177/147323000903700431 ◽

2009 ◽

Vol 37 (4) ◽

pp. 1230-1237 ◽

Cited By ~ 1

Author(s):

Sun Shunchang ◽

FW Luo ◽

HW Song ◽

JB He ◽

YS Peng

Keyword(s):

Male Infant ◽

Partial Trisomy ◽

Comparative Genomic ◽

Chromosome 15 ◽

Unbalanced Translocation ◽

Partial Monosomy ◽

Nasal Bridge ◽

Depressed Nasal Bridge ◽

Chromosomal Breakpoints ◽

Microarray Comparative Genomic Hybridization

Distal trisomy of 10q is a rare chromosomal abnormality. Distal deletions of the terminal long arm of chromosome 15 have rarely been described. We report on a male infant with low birth weight and microcephaly, a flat face with a spacious forehead, low-set ears, blepharophimosis, microphthalmia, a small nose, and a depressed nasal bridge. Microarray comparative genomic hybridization identified that he had the karyotype 46, XY, der (15) t (10;15) (q25.2;q26.2) pat, with chromosomal breakpoints at 10q25.2 and 15q26.2. This male neonatal case had an unbalanced translocation inherited from his father who was a balanced carrier with the karyotype 46, XY, t (10;15) (q25;q26). The neonate had a partial trisomy of the long arm of chromosome 10 with a partial monosomy of distal 15q. The clinical features were in agreement with previous descriptions and allowed us to propose a growth retardation phenotype for this neonate case.

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Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report

Balkan Journal of Medical Genetics ◽

10.2478/bjmg-2020-0014 ◽

2020 ◽

Vol 23 (1) ◽

pp. 99-102

Author(s):

A Karaman ◽

B Karaman ◽

A Çetinkaya ◽

S Karaman ◽

O Demirci

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

De Novo ◽

Ultrasound Examination ◽

Partial Trisomy ◽

Unbalanced Translocation ◽

Second Trimester ◽

Partial Monosomy ◽

Genetic Studies ◽

Dysmorphic Features

AbstractA 28-year-old woman underwent amniocentesis at 18 weeks’ gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks’ gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.

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