Cebocephaly‐holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]

Abstract

Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter leads to q32:). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q - syndrome, in which patients usually have growth and mental retardation with few facial abnormalities.

Holoprosencephaly: Association with interstitial deletion of 2p and review of the cytogenetic literature

“…This may be due to ascertainment bias. Included in this review of cytogenetic abnormalities in holoprosencephaly are reports with dup( l)(ql2) [Gardner et al, 1974, cases FQ58l and 10581, dup( l)(q32-+qter) and de1(7)(q34-+qter) [Schinzel, 1984;, three related newborn infants], dup(l)(q42--.qter) and del( 18p) [Liberfarb et al, 19791, de1(2)(p21-+p22.1) (present case), dup(3)(p21-+pter) [Van Regemorter et al, 1983;Gillerot et al, 1987;Kurtzman et al, 19871, dup(3)(p21-+pter) and del(l8p) [Buchinger et al, 19811, dup(3)(p23-pter) [Gimelli et al, 19851, dup(3)(p25-pter) [Martin and Steinberg, 19831, del(5)(pl5-+pter) and dup( 13)(q22+qter) [Yanagisawa et al, 1978 1, d e l ( 5 ) ( p l 5 -+ p t e r ) and dup(5)(q35-qter) [Schroeder et al, 19861, r(6) [Peeden et al, 19821, dup(6)(p21dpter) [Pearson et al, 1979;Smith and Pettersen, 19851, dup(6) (q21-qter), [Neu et al, 19811, de1 (7)(q21+q31) [Ayraud et al, 19761, de1 (7)(q32-+qter) [Friedrich et al, 1979;Schwartz et al, 1983;McMorrow et al, 19871, de1(7)(q34-qter] and dup(l8)(q21+qter) [Smart et al, 19861, dup(ll)(q211+qter) [Pihko et al, 19811, tetrasomy (12p) [Steinbach and Rehder, 19871, r(13) [review by Niebuhr and Ottosen, 19731, del(l3q) and dup(l3q) [review by Niebuhr, 1977;Wilson et al, 19871, dup(l4)(pter--.q24) [Cottrall et al,198 11, [Buckton and Barr, 19811, r(18) [Dumars et al, 1970;Yanoff et al, 1970 Cohen et al, 19721, i(18q) [Froster-Iskenius et al, 1984;Spinner, personal communication], del( 18p), and trisomy 18 [review by Schinzel, 19831, trisomy 20 [Becker and ...…”

Antenatal sonographic diagnosis of cebocephaly.

“…Several associated facial abnormalities have been described, including cyclopia (with a proboscis above the single orbit), premaxillary agenesis with midline or bilateral cleft lip and palate, ocular hypotelorism with or without a proboscis (ethmocephalus), and ocular hypotelorism with a flat, single-nostril nose (cebocephalus). 1 .3 The antenatal sonographic diagnosis of holoprosencephaly has been described multiple times.u 5 Shinzel et al described two cases of cebocephaly in which a sagittal scan of the fetal face showed hypoplasia of the nose in one of the cebocephalic fetuses. :z In our case, coronal scanning of the fetal face enabled us to visualize J Ultrasound Med 7;395-398, 1988 and correctly characterize the hypotelorism and small proboscis with a single nostril.…”

Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis

“…Although HPE in terminal 7q deletion had been reported by F'riedrich et al [19791, it was considered as an exception. More recently, the association of terminal 7q deletion with prosencephalic anomalies has been substantiated by reports of Schwartz et al [1983] and McMorrow et al [1987] on infants with HPE and cebocephaly and de1(7)(pter-.q32:).…”