Familial translocation (3p 15p) with partial trisomy for the upper arm of chromosome 3 in two sibs

Say, Burhan; Barber, Nancy; Bobrow, Martin; Jones, Kathryn L.; Coldwell, James G.

doi:10.1016/s0022-3476(76)80262-4

Cited by 22 publications

(17 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Thus females are less likely to be diagnosed. In some families [RethorC et al, 19721, the syndrome is lethal; in others [Say et al, 1976;Parloir et al, 19791, the affected individuals have survived several years. The size of the duplicated chromosome segment does not seem to be correlated with survival time.…”

Section: Discussionmentioning

confidence: 99%

“…Duplication of parts of 3p is relatively rare and was first described by RethorC et a1 [ 19721. To date 17 cases have been described with banding studies to determine location of breaks [RethorC et al, 1972;Ballesta et al, 1974;Sachdeva et al, 1974;Say et al, 1976;Surana et al, 1976;Francke, 1978;Schinzel et al, 1978;Yunis, 1978;Parloir et al, 1979;Hersch et al, 1980;Monteiro de Pino Net0 andFerrari, 1980 Buchinger et al, 1981;Charrow et al, 19811. Whenever both parents were studied, a balanced translocation was found in one of them.…”

Section: Introduction Anomalies Syndrome Aneuploidy Syndromementioning

confidence: 99%

See 1 more Smart Citation

The dup(3)(p25 → pter) syndrome: A case with holoprosencephaly

Martin

Steinberg

Opitz³

1983

Am. J. Med. Genet.

View full text Add to dashboard Cite

We report a patient with dup(3p) syndrome with holoprosencephaly. This infant is compared with 17 others reported previously with banding studies. In 72% of cases the duplication derived from a mother with a balanced translocation; 78% of affected individuals are males. The most common anomalies are characteristic facial changes, congenital heart defects, and hypoplasia of male genitalia. Holoprosencephaly has not been reported before in the dup(3p) syndrome.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introduction Anomalies Syndrome Aneuploidy Syndromementioning

confidence: 99%

The dup(3)(p25 → pter) syndrome: A case with holoprosencephaly

Martin

Steinberg

Opitz³

1983

Am. J. Med. Genet.

View full text Add to dashboard Cite

show abstract

“…However, a probabilistic approach indicates that the distribution in the To date, in 16 of the 17 patients with duplications of 3p, the duplications have re- The 1 2 families with sufficiently detailed banding analysis form 3 groups. Depending on the location of the break point, there are duplications of 3p21+3pter (7 families, 9 cases); 3p23-+3pter (4 families, 5 cases), and 3p25+3pter (1 family, 2 cases). Unfortunately, because of incomplete clinical information and the small numbers of patients represented for each duplicated segment, it is not possible to attempt a detailed correlation between specific clinical findings and duplication of individual bands of 3p.…”

Section: Discuss1 Onmentioning

confidence: 99%

Duplication 3p syndrome: Report of a new case and review of the literature

Charrow¹,

Cohen²,

Meeker³

et al. 1981

Am. J. Med. Genet.

View full text Add to dashboard Cite

A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21 leads to pter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. The manifestations include low birth weight, short stature, microcephaly, characteristic "square" face with temporal indentations, hypertelorism and/or telecanthus, epicanthus with a broad nasal bridge and large nasal tip, and down-turned corners of the mouth. Cleft lip/palate and eversion of the lips are common. The jaw is typically small and receding and the neck short. Congenital heart disease, gastrointestinal malformations, abnormalities on intravenous urography, and defective masculinization of the male infants are frequently observed. A predominance of whorls is present on the fingers. Nearly half of the cases died before 6 months. All affected children surviving beyond 1 year have been mentally retarded.

show abstract

“…Since then, there have been reported of eight additional cases with this condition, almost all having a parent with a balanced translocation involving 3p (Sachdeva et al, 1974;Ballesta and Vehi, 1974;Say et al, 1976;Yunis, 1978;Surana et al, 1977;Parloir et al, 1979;Francke, 1978;Tsukino et al, 1981). The extent of the duplicated segment varied in each case.…”

Section: Discussionmentioning

confidence: 99%