An infant deceased at 2 months of age was found to have a 46,XY,-10, +der(10),t (6;10) (q23;q26) mat karyotype. Since the clinical findings were similar to those of the trisomy 6qter syndrome, the present observation agrees with the assignment of the 6q23----qter segment as the pathogenetic determiner of this entity.

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Article Synopsis
  • * Researchers analyzed ultrasound data from 22 fetuses with the 6qter deletion, finding significant brain abnormalities such as cerebellar hypoplasia and ventricular enlargement, alongside other structural issues.
  • * The results reveal common prenatal sonographic markers for the 6q deletion syndrome and underscore the need for chromosomal microarray analysis to detect related genetic deletions in cases with observed malformations.
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Background: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome.

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

Mol Cytogenet

November 2014

Department of Genetics, Dingli Clinical Medical School, Wenzhou Medical University, Key Laboratory of Birth Defects, Wenzhou, Zhejiang China ; Key Laboratory of Medical Genetics, Zhejiang, China.

Background: Terminal deletion of 6q27 produces a rare syndrome associated with unexplained mental retardation, hypotonia, epilepsy, and multiple malformations. Structural brain malformations are consistently observed, including agenesis of the corpus callosum, hydrocephalus, periventricular nodular heterotopia, polymicrogyria, and cerebellar malformations. Here we report a fetal risk assessment of a 27-year-old woman with mental retardation, hypotonia and dysmorphic features at 17 weeks of pregnancy.

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A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations.

Prenat Diagn

April 2010

Laboratoire de Génétique Médicale, Nancy Université, Centre Hospitalier Régional et Universitaire, Rue du Morvan, Vandoeuvre-les-Nancy cedex 1, France.

Objective: To retrospectively define the frequency and the nature of submicroscopic chromosomal imbalances among fetuses with multiple congenital anomalies (MCA).

Methods: We used oligonucleotide arrays to perform comparative genomic hybridization after termination of pregnancy in 50 polymalformated fetuses with a normal karyotype. These fetuses presented with at least three significant malformations (42 cases) or a severe brain anomaly (eight cases).

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Prenatal diagnosis of interstitially satellited 6p.

Prenat Diagn

June 2004

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.

Objectives: To present the prenatal diagnosis of de novo interstitially satellited 6p and a review of the literature.

Case: An amniocentesis was performed at 18 weeks' gestation because of paternal balanced translocation, t(6;14)(p22;p12). Family history of the father showed the derivative chromosomes to be transmitted through at least two generations with three members affected with partial trisomy 6p (6p22 --> 6pter).

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