Cebocephaly in an infant with trisomy 18.
نویسندگان
چکیده
An infant who died in the perinatal period with the unusual association of trisomy 18 and cebocephaly is described. It is suggested that this association may be more common than is generally recognised because the majority of such infants are stillborn or live only briefly and often do not have chromosome studies performed.
منابع مشابه
Further studies on the genetic heterogeneity of cebocephaly.
The detailed morphological description of 4 cases with cebocephaly, 3 of which were karotyped (one with D trisomy and 2 with normal karyotypes), are presented. Analysis of all cytogenetically studied cases with this malformation reveals that cebocephaly with a normal karyotype may result from more than one mutant gene, and so it may be accompanied by different extracranial abnormalities. On the...
متن کاملPrenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus.
We report on the prenatal diagnosis, genetic studies, and pathology of a case with de novo isochromosome 13q. A 31-year-old primigravida was referred for genetic counselling at 26 weeks' gestation due to the sonographic findings of intrauterine growth retardation and microcephaly. Level II ultrasonograms further demonstrated alobar holoprosencephaly, hypotelorism, polydactyly, a ventricular sep...
متن کاملArrhinencephaly associated with a deficiency involving chromosome 18.
and The Children's Hospital, Birmingham Bilateral harelip, cleft palate, and some form of arrhinencephalic malformation of the brain are among the more common striking features of tri-somy 13-15. These cranio-facial malformations are attributable to a defect of the prechordal meso-derm, and the most extreme form consists of cyclopia associated with a monoventricular brain. The facial and cerebr...
متن کاملPrenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly.
OBJECTIVE To present prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3). MATERIALS, METHODS, AND RESULTS A 32-year-old woman was referred for genetic counseling of prenatally detected isochromosome 18q [i(18q)]. She had undergone amniocentesis at 19 gestational weeks because of a trisomy 18 risk of...
متن کاملAn infant with trisomy 18 and a ventricular septal defect.
Decisions for critically ill infants with trisomy 18 raise thorny issues about values, futility, the burdens of treatment, cost-effectiveness, and justice. We presented the case of an infant with trisomy 18 to 2 neonatologists with experience in clinical ethics, Annie Janvier and Felix Okah, and to a parent, Barbara Farlow. They do not agree about the right thing to do.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 14 4 شماره
صفحات -
تاریخ انتشار 1977