scholarly journals Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
M. Abreu-González ◽  
C. García-Delgado ◽  
A. Cervantes ◽  
A. Aparicio-Onofre ◽  
R. Guevara-Yáñez ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Acrocentric Chromosome ◽  
Partial Trisomy ◽  
Balanced Translocation ◽  
Nasal Bridge ◽  
Genomic Imbalances ◽  
Biochemical Analyses ◽  
Broad Nasal Bridge ◽  
Duplication Syndrome

Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%–75% of cases are derived from a balanced translocation. We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13)(q26.2;p11.2). As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome. There are 4 affected individuals and several carriers among three generations. The report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to define the phenotype associated with the syndrome. Furthermore, we confirmed that the survival until adulthood is possible. This report also identified the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype.

Familial Partial Trisomy of the Long Arm of Chromosome 10 (q24-26)

PEDIATRICS ◽  
1975 ◽  
Vol 56 (5) ◽  
pp. 756-761
Author(s):  
Humberto Moreno-Fuenmayor ◽  
Elaine H. Zackai ◽  
William J. Mellman ◽  
Margaret Aronson
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Upper Lip ◽  
Partial Monosomy ◽  
Nasal Bridge ◽  
Depressed Nasal Bridge ◽  
Hands And Feet

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.

Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay

2015 ◽  
Vol 145 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Divya Bose ◽  
Venkatesh Krishnamurthy ◽  
K.S. Venkatesh ◽  
Mohamed Aiyaz ◽  
Mitesh Shetty ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Oligonucleotide Array ◽  
Global Developmental Delay ◽  
Potential Candidate ◽  
Balanced Translocation ◽  
Dysmorphic Features ◽  
Novel Association

This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.

scholarly journals Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

2020 ◽  
Author(s):  
Jingbo Zhang ◽  
Bei Zhang ◽  
Tong Liu ◽  
Huihui Xie ◽  
Jingfang Zhai
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Partial Trisomy ◽  
Distal Region ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Chromosome 4 ◽  
Chromosome 5 ◽  
Balanced Translocation

Abstract Background: Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced translocation gamete with a normal gamete, the partial monomer or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformations. We reported a woman with chromosomal balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. Case presentation: We presented a woman with chromosomal balanced translocation who had three adverse pregnancies. Routine G banding and CNV-seq were used to analyze the chromosome karyotypes and copy number variants of amniotic fluid cells and peripheral blood. The karyotype of the woman was 46,XX,t(4;5)(q33;p15). During her first pregnancy, odinopoeia was performed due to fetal edema and abdominal fluid. The umbilical cord tissue of the fetus was examined by CNV-seq. The results showed a genomic gain of 24.18 Mb at 4q32.3-q35.2 and a genomic deletion of 10.84 Mb at 5p15.33-p15.2 and 2.36 Mb at 15q11.1-q11.2. During her second pregnancy, she did not receive a prenatal diagnosis because a routine prenatal ultrasound examination found no abnormalities. In 2016, she gave birth to a boy.. The karyotype the of the boy was 46,XY,der(5)t(4;5)(q33;p15)mat. The results of CNV-seq showed a deletion of short arm of chromosome 5 capturing regions 5p15.33p15.2, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. During her third pregnancy, she underwent amniocentesis at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,der(5)t(4;5)(q33;p15)mat. Results of CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.33p15.2 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2.Conclusions: Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

scholarly journals Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Bani Bandana Ganguly ◽  
Vijay Kadam ◽  
Nitin N. Kadam
Keyword(s):  
Chromosomal Rearrangements ◽  
Phenotypic Expression ◽  
Partial Trisomy ◽  
Derivative Chromosome ◽  
Chromosome 6 ◽  
Clinical Expression ◽  
Balanced Translocation ◽  
Nasal Bridge ◽  
Flat Nasal Bridge ◽  
Chromosomal Alteration

Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a family comprising of healthy and non-consanguineous young parents and their preemie newborn severely affected with congenital anomalies and systemic disorders. Conventional Gbanding analysis of somatic chromosomes identified a balanced translocation, t(6;10)(p23;q24), in mother and an unbalanced rearrangement, der(6)t(6:10)(p23;q24)mat, in the child. The child has inherited a derivative chromosome 6 with partial deletion of 6(p23-pter) and partial trisomy 10(q24-qter), which has resulted in fusion of genes of two different chromosomes. The prominent phenotypic features of del(6p), including high forehead, flat nasal bridge, agenesis of left ear, atrial septal defect (ASD), craniosynostosis, and growth retardation, are overlapping with specific Axenfeld-Reiger-, Larsen-, and Ritscher-Sinzel/3-C syndromes, however, lacking in ocular anomalies, skeletal laxity, or cerebellar malformation. Therefore, this paper rules out the isolated effect of del(6p23) or trisomy 10(q24) on distinct previously reported syndromes and proposes the combined effect of unbalanced chromosomal alteration.

scholarly journals Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

2020 ◽  
Author(s):  
Jingbo Zhang ◽  
Bei Zhang ◽  
Tong Liu ◽  
Huihui Xie ◽  
Jingfang Zhai
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Partial Trisomy ◽  
Distal Region ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Chromosome 4 ◽  
Chromosome 5 ◽  
Balanced Translocation

Abstract Background：Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced translocation gamete with a normal gamete, the partial monosomy or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformations. We reported a woman with chromosomal balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. Case presentation：We presented a woman with chromosomal balanced translocation who had three adverse pregnancies. Routine G banding and CNV-seq were used to analyze the chromosome karyotypes and copy number variants of amniotic fluid cells and peripheral blood. The karyotype of the woman was 46,XX,t(4;5)(q33;p15). During her first pregnancy, odinopoeia was performed due to fetal edema and abdominal fluid. The umbilical cord tissue of the fetus was examined by CNV-seq. The results showed a genomic gain of 24.18 Mb at 4q32.3-q35.2 and a genomic deletion of 10.84 Mb at 5p15.2-p15.33 and 2.36 Mb at 15q11.1-q11.2. During her second pregnancy, she did not receive a prenatal diagnosis because a routine prenatal ultrasound examination found no abnormalities. In 2016, she gave birth to a boy.. The karyotype the of the boy was 46,XY,der(5)t(4;5)(q33;p15)mat. The results of CNV-seq showed a deletion of short arm of chromosome 5 capturing regions 5p15.2-p15.33, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. During her third pregnancy, she underwent amniocentesis at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,der(5)t(4;5)(q33;p15)mat. Results of CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.2p15.33 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2.Conclusions：Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

scholarly journals Structural brain imaging abnormalities associated with schizophrenia and partial trisomy of chromosome 5

1992 ◽  
Vol 22 (2) ◽  
pp. 519-524 ◽  
Author(s):  
William G. Honer ◽  
Anne S. Bassett ◽  
G. William MacEwan ◽  
Trevor Hurwitz ◽  
David K. B. Li ◽  
...  
Keyword(s):  
Mental Illness ◽  
Chromosomal Abnormalities ◽  
Partial Trisomy ◽  
Normal Male ◽  
Chromosome 5 ◽  
Balanced Translocation ◽  
Cavum Septum Pellucidum ◽  
Genetic Abnormalities ◽  
Translocation Breakpoints ◽  
The Brain

SYNOPSISChromosomal abnormalities occurring in association with mental illness provide a unique opportunity to study the interaction of genetic abnormalities and the brain in mental illness. Four individuals from a family in which schizophrenia was found to cosegregate with a partial trisomy of chromosome 5 were studied with computed tomography and magnetic resonance imaging. Temporal lobe atrophy was found in the two trisomic males and in the asymptomatic balanced translocation female. In addition, a large cavum septum pellucidum and a cavum vergae were found in the older trisomic individual. Scans from the normal male were free of abnormalities. These results suggest that molecular studies of the translocation breakpoints in this chromosomal abnormality may be of interest, and encourage further studies of brain structure in other chromosomal abnormalities associated with psychosis.

scholarly journals Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

2020 ◽  
Author(s):  
Jingbo Zhang ◽  
Bei Zhang ◽  
Tong Liu ◽  
Huihui Xie ◽  
Jingfang Zhai
Keyword(s):  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Partial Trisomy ◽  
Distal Region ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Chromosome 4 ◽  
Chromosome 5 ◽  
Balanced Translocation ◽  
Reproductive Risk

Abstract Background Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. After fertilization of a balanced translocation carrier with a normal gamete, the partial monomer or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformatio. We reported a woman with balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. Case presentation Routine G banding was used to analyze the chromosome karyotypes of amniotic fluid, pregnant women and her son in peripheral blood, and then the chromosomal abnormalities were precisely located by CNV-seq detection. The karyotype of the women was 46,XX,t(4;5)(q33;p15). The karyotypethe of the boy was 46,XY,add(5)(p14). CNV-seq was used for further analysis of the structural chromosomal rearrangement in the boy.The results were shown a deletion of short arm of chromosome 5 capturing regions 5p15.33p15.2, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. Amniocentesis was performed at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,add(5)(p14). Further detection of chromosomal aberrations by CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.33p15.2 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2. Conclusions Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

scholarly journals Partial trisomy 15: a rare occurrence

2019 ◽  
Vol 6 (2) ◽  
pp. 883
Author(s):  
Prachi Gandhi ◽  
Sushma Malik ◽  
Sharan Subramanian ◽  
Poonam Wade ◽  
Shruti Saxena ◽  
...  
Keyword(s):  
Clinical Course ◽  
Partial Trisomy ◽  
Chromosome 15 ◽  
Craniofacial Anomalies ◽  
Rare Entity ◽  
Short Neck ◽  
Narrow Face ◽  
Nasal Bridge ◽  
Skeletal Malformations ◽  
Broad Nasal Bridge

Partial trisomy 15q is a very rare entity and most of them are characterized by duplication of regions 15q21-15q26.3. This duplication is frequently associated with deletions in another chromosome resulting in unbalanced translocations. Authors report here, a rare case of partial trisomy 15, with breakpoints between 15q11.1 to q23, probably the first reported case with these breakpoints. Irrespective of the breakpoints, the phenotypic features are consistent in all affected cases and predominantly consist of craniofacial anomalies. In addition, finger abnormalities, very short neck, skeletal malformations and congenital heart disease may be present. Our neonate had typical dysmorphic features of arachnocamptodactyly, narrow face, large prominent, nose with broad nasal bridge, long philtrum, pointed chin, short neck, and low set deformed ears.  Neonates’ cytogenetic analysis revealed additional chromosomal material on the long arm of the chromosome 15 from q11.1 to q23.1, which was suggestive of partial trisomy of chromosome 15. Most cases reported have had a stormy clinical course, however, our proband had only mild respiratory distress at birth and she was discharged in a few days.

scholarly journals Marginal zone B-cell lymphomas of different sites share similar cytogenetic and morphologic features [see comments]

Blood ◽  
1996 ◽  
Vol 87 (1) ◽  
pp. 299-307 ◽  
Author(s):  
J Dierlamm ◽  
S Pittaluga ◽  
I Wlodarska ◽  
M Stul ◽  
J Thomas ◽  
...  
Keyword(s):  
B Cell ◽  
Structural Changes ◽  
Marginal Zone ◽  
Chromosomal Abnormalities ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
B Cell Lymphoma ◽  
Partial Trisomy ◽  
Chromosome 1 ◽  
Chromosomal Changes

Clinical, histologic, cytogenetic, and molecular genetic data of 31 patients with extranodal, nodal, and splenic marginal zone B-cell lymphoma (MZBCL) are presented. Despite these variable clinical manifestations, a similar spectrum of morphologic features as well as distinctive immunophenotypic findings were noted. In all cases, a monotypic B-cell proliferation consistently negative for CD5, CD10, and CD23 was found expanding the marginal zone of the B follicle with and without colonization of the follicle centers. Clonal chromosomal abnormalities were detected in 23 of the 31 patients. Recurrent aberrations included whole or partial trisomy 3 (18 cases), trisomy 18 (9 cases), and structural rearrangements of chromosome 1 with breakpoints in 1q21 (9 cases) or 1p34 (6 cases), all of which were seen in extranodal, nodal, as well as splenic MZBCL. Abnormalities of the additional chromosome 3, such as +del(3)(p13),+i(3)(q10), or structural changes involving the distal part of the long arm, were evident in 9 of the 18 cases. All recurrent abnormalities were found in MZBCL more frequently than in other histologic entities of B-cell non-Hodgkin's lymphoma (B-NHL). None of the known lymphoma-associated chromosomal changes or rearrangements of the BCL1, BCL2, BCL3, BCL6, and CMYC genes were detected. We conclude that MZBCL represent a distinct entity of B- NHL with characteristic morphologic and immunophenotypic features and particular chromosomal abnormalities, and that a close histogenetic relationship between extranodal, nodal, and splenic MZBCL is likely, although the clinical presentation may vary.

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