Partial trisomy 6p due to familial translocation t(6;20)(p21;p13)

Breuning, Martijn H.; Bijlsma, J. B.; France, H F de

doi:10.1007/bf00295802

Cited by 36 publications

(27 citation statements)

References 7 publications

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“…These findings suggested the definition of the 6p trisomy syndrome [Breuning et al, 1977]. Nevertheless, it could be noted that important features of this syndrome are associated with different partial trisomies that involve different chromosomes [Villa et al, 2000].…”

Section: Discussionmentioning

confidence: 92%

Karyotype-Phenotype Correlation in Partial Trisomies of the Short Arm of Chromosome 6: A Family Case Report and Review of the Literature

Castiglione

Guaran

Astolfi

et al. 2013

Cytogenet Genome Res

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The first child (proband) of nonconsanguineous Caucasian parents underwent genetic investigation because she was affected with congenital choanal atresia, heart defects and kidney hyposplasia with mild transient renal insufficiency. The direct DNA sequencing after PCR of the CHD7 gene, which is thought to be responsible for approximately 60-70% of the cases of CHARGE syndrome/association, found no mutations. The cytogenetic analysis (standard GTG banding karyotype) revealed the presence of extrachromosomal material on 10q. The chromosome analysis was completed with array CGH (30 kb resolution), MLPA and FISH, which allowed the identification of three 6p regions (6p.25.3p23 × 3): 2 of these regions are normally located on chromosome 6, and the third region is translocated to the long arm of chromosome 10. The same chromosomal rearrangement was subsequently found in the father, who was affected with congenital ptosis and progressive hearing loss, and in the proband's sister, the second child, who presented at birth with choanal atresia and congenital heart defects. The mutated karyotypes, which were directly inherited, are thought to be responsible for a variable phenotype, including craniofacial dysmorphisms, choanal atresia, congenital ptosis, sensorineural hearing loss, heart defects, developmental delay, and renal dysfunction. Nevertheless, to achieve a complete audiological assessment of the father, he underwent further investigation that revealed an increased level of the coagulation factor XIII (300% increased activity), fluctuating levels of fibrin D-dimer degradation products (from 296 to 1,587 ng/ml) and a homoplasmic mitochondrial DNA mutation: T961G in the MTRNR1 (12S rRNA) gene. He was made a candidate for cochlear implantation. Preoperative high-resolution computed tomography and magnetic resonance imaging of the temporal bone revealed the presence of an Arnold-Chiari malformation type I. To the best of our knowledge, this study is the second report on partial 6p trisomy that involves the 10q terminal region. Furthermore, we report the first case of documented Arnold-Chiari malformation type I and increased factor XIII activity associated with 6p trisomy. We present a comprehensive report of the familial cases and an exhaustive literature review.

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Section: Discussionmentioning

confidence: 92%

Karyotype-Phenotype Correlation in Partial Trisomies of the Short Arm of Chromosome 6: A Family Case Report and Review of the Literature

Castiglione

Guaran

Astolfi

et al. 2013

Cytogenet Genome Res

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“…Breuning et al [1977] were the first to characteriie the dup (6p) syndrome based on a personal case and five cases from the literature. Edwards et a1 [I9621 actually described the first published case, but the chromosome constitution of this individual was not known until 20 years later, following further studies of the patient's relatives which uncovered a carrier with a translocation between chromosomes 1 and 6 [Edwards, 19821. To date, 16 dup (6p) cases have been reported [Edwards et al, 1962;Therkelsen et al, 1971;Chiyo et al, 1975;Breuning et al, 1977;Turleau et al, 1978;C6tC et al, 1978;Bernheim et al, 1979;Rosi et al, 1979;Pearson et al, 1979;Pagano et al, 1980;Yiiksel et al, 1980;Ferrando et al, 1981;Fryns et al, 19831. The most comprehensive review is by Yuksel et al [1980], who summarized the clinical and cytogenetic findings in ten cases.…”

Section: Introductionmentioning

confidence: 99%

An anatomical study of a duplication 6p based on two sibs

Smith¹,

Pettersen²,

Opitz³

et al. 1985

Am. J. Med. Genet.

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Dup (6p) patients have a peculiar facial appearance (frontal bossing, hypotelorism, hypoplastic midface), low birthweight, cardiovascular defects, small kidneys, and psychomotor retardation. We thought that a detailed anatomical dissection would more precisely define the syndrome, which has been developed from clinical evaluations and autopsy reports. Our patient, a female adolescent, died at 17 11/12 years and is the oldest patient with this syndrome to be described. The brain and skull showed the greatest number of abnormalities. The brain was smaller than normal and abnormally shaped. Many of the skull abnormalities, including shortened basisphenoid/basiocciput, reduced size of cranial fossae, and steep orbital roofs, may be attributed to the brain's shape. There were no olfactory bulbs, and only one rudimentary olfactory tract was present. Other findings were the following: a high interventricular septal defect and right ventricular hypertrophy, absence of uterus and vagina, hypoplastic ovaries, a common mesentery, two left extensor indicis bellies, bilateral absence of palmaris brevis and of peroneus tertius. Our results are compared with anomalies found in other aneuploidy syndromes. Variations in some organ systems may be similar to those whose presence Shapiro [1983] has attributed to amplified developmental instability. Relationships between the brain shape and size and skull abnormalities are also discussed. From 16 reported cases, a detailed autopsy report of the affected brother, and our anatomical findings, we suggest that this syndrome may also be characterized by arhinencephaly, common mesentery, absent uterus in the female, and growth retardation in those surviving the neonatal period.

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“…Because this familial recurrence has been referred to as evidence for an autosomal recessive form of agnathia, we think that it is necessary to correct the previously published information. In addition, the survival of only females with the inherited chromosome imbalance is striking in this family, and a similar preponderance of females has been suggested for monosomy 18p [Schinzel, 19841 and for duplication 6p [Bernheim et al, 1979;Breuning et al, 1977;Chiyo et al, 1975;CBt6 et al, 1978;Ferrando et al, 1981;Fryns et al, 1983Fryns et al, , 1986Gouw et al, 1973;Muneer et al, 1984;Pagano et al, 1980;Pearson et al, 1979;Rosi et al, 1979;Schinzel, 1984;Smith and Pettersen, 1985;Therkelsen et al, 1971;Turleau et al, 1978;Yuksel et al, 19801. This probably reflects more deleterious effects of the chromosomal imbalance in males, although the total number of individuals identified is small.…”

Section: To the Editormentioning

confidence: 79%