Median facial cleft associated with ring E chromosome.
نویسندگان
چکیده
Case Report This term (gestation 42 weeks; weight 2508 g., length 43 cm.) female infant was born to a primiparous 19-year-old Caucasian mother and a 19-year-old Negro father. Pregnancy was complicated by maternal exposure to rubella during the third month of pregnancy, which was treated with 20 ml. y-globulin. Slight vaginal bleeding occurred during the 7th month of pregnancy and was treated with hydroxyprogesterone
منابع مشابه
Ring Chromosome 18: A Case Report
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...
متن کاملPrenatal diagnosis of holoprosencephaly associated and proboscis in a fetus with de novo deletion 18p
Objective Holoprosencephaly (HPE) is the most common forebrain developmental anomaly in humans with prevalence of 1/ 16, 000 in live borns that results from a failure of prosencepholon cleavage. In most of the cases, due to defective primordial mesenchyme, facial anomalies are observed like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitar...
متن کاملFirst Branchial Cleft Fistula Associated with External Auditory Canal Stenosis and Middle Ear Cholesteatoma
Introduction: First branchial cleft anomalies manifest with duplication of the external auditory canal. Case Report: This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and...
متن کاملPrevalence of Associated Anomalies in Cleft Lip and/or Palate Patients
Introduction: Orofacial clefts are among the most common congenital anomalies. Patients presenting with orofacial clefts often require surgery or other complex procedures. A cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. The reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnost...
متن کاملSmall extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.
We present a case with a small extra ring chromosome which was found in 66% of lymphocytes on routine cytogenetic examination. FISH analyses, using centromere specific and single copy probes, showed that the extra ring chromosome was derived from the most proximal part of 10p, close to the centromere. The patient has a unilateral cleft lip and palate, mild dysmorphic features, and mild mental r...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 7 1 شماره
صفحات -
تاریخ انتشار 1970