Clinicopathologic conference: dup(10q), del(12p) in one abnormal, dizygotic twin infant of a t(10;12) (q22.1;p13.3) mother

Abstract

Recognition of a twin pregnancy in a balanced translocation carrier constituted the basis for referral for prenatal diagnosis. She and her husband were 25 years old, phenotypically normal, and not consanguineous.Their first pregnancy had produced a stillborn female with a multiple congenital anomalies (MCA) syndrome at 35 weeks of gestation. The fetus weighed 1,790 g, and measured 43 cm from crown to heel, 29.3 cm from crown to rump, and 29.1 cm in occipitofrontal circumference (OFC). The placenta weighed 380 g with the fetal surface showing the normal vascular pattern and the cord containing the usual three vessels. The anomalies included 1) anophthalmia, with absent optic nerves and lateral geniculate bodies; 2) absent olfactory bulbs and striae; 3) unilaterally open temporal lobe operculum; 4) "fused pluricystic, hypoplastic kidneys," which weighed 9 g (normal = 16 g); 5 ) hypoplastic lungs, weighing 16 g (normal = 38 g); 6) kypho-

Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12

“…De novo deletion occurred in 12 cases of which 10 were interstitial. Four terminal deletions involving 12p13 to 12pter resulted from familial translocations [Juberg et al, 1984; Rivas et al, 1985; Glass et al, 2000] and a cryptic subtelomeric deletion was described in both a mother and her son [Baker et al, 2002]. Ten out of 15 breakpoints involved 12p13.…”

“… Phenotypic comparison between Patients 1 and 2 and the reported cases who have a cytogenetic abnormality overlapping 12q24→12qter as a duplication [Hobolth et al, 1974; Prieur et al, 1977; Hemming and Brown, 1979; De Muelenaere et al, 1980; Harrod et al, 1980; Melnyk et al, 1981; Roberts et al, 1981; Zabel and Baumann, 1981; Pratt and Bulugahapitiya, 1983; Tajara et al, 1985; Tengström et al, 1985; McCorquodale et al, 1986; Dixon et al, 1993; Houfflin et al, 1993; Koiffmann et al, 1995; El‐Shanti et al, 1997; Wilson and Oei, 1998] and 12p13→12pter as a deletion [Mayeda et al, 1974; Magnelli and Therman, 1975; Tenconi et al, 1975; Juberg et al, 1984; Kivlin et al, 1985; Orye et al, 1985; Rivas et al, 1985; Romain et al, 1987; Baroncini et al, 1990; Fryns et al, 1990; Trautmann and Pfeiffer, 1994; Glass et al, 2000]. …”

Aplasia of the optic nerve in two cases of partial trisomy 10q24‐ter

“…iii. In one observation with a more complicated duplication of regions of the long and of the short arm, anophthalmia was noted with absent optic nerve and lateral geniculate bodies, but absent olfactory bulbs were also recorded (Juberg et al 1984). On the other hand, there have been a few observations with normal eyes (Reinthaler 1985, Briscioli et al 1993).…”

Inheritance of Kidney and Urinary Tract Diseases

“…dup ( 4p ) syndrome The most consistent findings include obesity, mental and motor retardation, seizures, microcephaly, bulbous nose with depressed or flat nasal bridge, synophrys, macroglossia, irregular teeth, small pointed mandible, enlarged ears with abnormal helix and antihelix, and short neck [447]. Micropenis, hypospadias, and cryptorchidism may occur in males.…”