Translocation (1;22) in a child with bilateral oblique facial clefts.
نویسندگان
چکیده
منابع مشابه
Translocation (1;22) in a child with bilateral oblique facial clefts.
An eight month old girl was born with symmetrical bilateral oblique facial clefts and calcaneovarus foot deformity. CT scan of the head showed severe bilateral ocular hypoplasia and normal brain parenchyma. Peripheral blood karyotype showed a de novo balanced translocation between a chromosome 1 and 22. A submicroscopic imbalance secondary to this translocation cannot be ruled out. The pattern ...
متن کاملOblique facial clefts: pathology, etiology, and reconstruction.
Modern views on embryology have increased our understanding of the nature of oblique facial clefts. The anomalies that have their origin at the junction of facial processes, such as the nasomaxillary dysplasias, may be named primary clefts or transformation. The maxillary clefts that are due to a developmental arrest of the skeleton are in fact secondary defects of differentiation defects. The ...
متن کاملEpidemiology of facial clefts.
Data from the Glasgow Register of Congenital Malformations were used to investigate the epidemiology of congenital facial clefts over the period 1974-85. Facial clefts were registered in 247 infants representing a prevalence of 1.56 per 1000 total births. Cleft palate was more common than cleft lip, with cleft lip and palate occupying an intermediate position. More than half of the infants with...
متن کاملBilateral natal clefts in a neonate.
A term female neonate is found to have bilateral natal clefts terminating in a lipomatous nodule (see Fig. 1). The anus is located proximally. What is the likely diagnosis, and how would you investigate this further? (Answer on page 791).
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1988
ISSN: 1468-6244
DOI: 10.1136/jmg.25.6.427