Partial trisomy 6p

Bernheim, Alain; Berger, Roland; Vaugier, G; Thieffry, J.-C.; Matet, Y.

doi:10.1007/bf00273268

Cited by 28 publications

(16 citation statements)

References 8 publications

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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: 95%

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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Section: Introductionmentioning

confidence: 95%

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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“…[56] In the present report, the child was morphologically normal and had no other clinical features except mental retardation and convulsions. There are not many reports describing the clinical features associated with monosomy for the distal part of short arm of chromosome 11, though, this region has been demonstrated to be involved with Russell Silver syndrome and Beckwith-Wiedemann syndrome.…”

Section: Discussionmentioning

confidence: 57%

Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping

Ranjan¹,

Desai²,

Saxena³

2013

Indian J Hum Genet

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The presence of derivative chromosome in a child with phenotypic features necessitates the need of parental karyotyping to ascertain the exact amount of loss or gain of the genetic material. The aim of this study was to emphasize the importance of parental karyotyping. Cytogenetic evaluation of the proband and his father were carried out at Laboratory. Cytogenetic analysis was performed on phytohemagglutinin stimulated cultures. The derivative chromosome 11 in proband was ascertained to have additional material from chromosome 6p arising from complex chromosomal rearrangement in the father. Karyotyping is the basic, cost-effective preliminary investigation in a child with mental subnormality or congenital anomalies.

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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%