Retinoblastoma, gross internal malformations, and deletion 13q14→q31

Microdissection and Dop-PCR-Based Reverse Chromosome Painting as a Fast and Reliable Strategy in the Analysis of Various Structural Chromosome Abnormalities

“…An autopsy of the legally aborted fetus at 20 weeks of gestation also revealed, apart from dysmorphic features, complex cardiac defects and renal agenesis. The comparison of cases with a proximal interstitial monosomy in the long arm of chromosome 13 lends support to the observation that these deletion syndromes constitute a phenotypically and cytogenetically heterogeneous group (Nichols et al, 1979;Serena-Lungarotti et al, 1979;Yunis et al, 1981). Despite the lack of a definite clinical picture, psychomotor retardation seems to be the most constant feature (Peet et al, 1987).…”

“…A 10-month-old girl with the same deletion [del(l3)(q14q22)] as that reported here showed developmental retardation, poor thriving, bilateral retinoblastoma, strabismus, bifida uvula, short fifth fingers, and muscular hypotonia (Orye et al, 1974). Gross intestinal malformations can be associated with the deletion encompassing the bands 13ql-31 (Yunis et al, 1981). Congenital heart diseases have been reported in three other cases (Allerdice et al, 1969;Orbeli et al, 1971;Serena-Lungarotti et al, 1979), whereas renal agenesis has not previously been described.…”

Hirschsprung Disease in an Infant with a Contiguous Gene Syndrome of Chromosome 13

“…Anterior displacement of the anus was noted in two patients with a ring chromosome 13 with breakpoints at q32 [Martin et al, 1982] and in another child with a 13q21±q31 deletion [Lungarotti et al, 1979]. Deletions involving 13q14 can cause agenesis or atresia of the small or large bowel and of the mesentery [Yunis and Ramsay, 1978;Yunis et al, 1981;Nishikawa et al, 1985]. Hirschsprung disease caused by deletion 13q14.1q22.3 was reported by Sparkes et al [1984].…”

“…Anomalies of the gastrointestinal tract are not prominent in these descriptions. Deletions involving 13q14 can cause agenesis or atresia of the small or large bowel and of the mesentery [Yunis and Ramsay, 1978;Yunis et al, 1981;Nishikawa et al, 1985]. Deletions involving 13q14 can cause agenesis or atresia of the small or large bowel and of the mesentery [Yunis and Ramsay, 1978;Yunis et al, 1981;Nishikawa et al, 1985].…”

Report of the committee on the genetic constitution of chromosomes 13 to 22

“…The assignments of both ESD and RBI are inconsistent. References: (1) Evans et al (1974); (2) Sparkes et al (1979b)\ (3) N orum et al (1979); (4) Sparkes et al (1979c); (5) O ishi et al (1979); (6) Riccardi et al (1979); (7) Walbaum et al (1978); (17) Sparkes et al (19796); (18) Weichselbaum et al (1977); (19) Riccardi et al (1979);(20) Ballesta and C ruz (1978); (21) Davison et al (1979); (24) Sparkes et al (1979);(25) Aronson et al (1980); (26) BalabanMalenbaum et al (1980);(27) M atsunaga et al (1980); (28) Sparkes et al (1980); (29) Vogel (1979);(30) W ard et al (1980); (31) Yunis et al (1981); (32) Riccardi et al (1979); (33) Despoisse et al (1981).…”