Prenatal recognition of 4p- syndrome.
نویسندگان
چکیده
A fetus with the rare 4p- syndrome was detected by chromosome analysis of amniotic cell culture, and the pregnancy terminated. The fetus showed a number of the physical stigmata of the syndrome.
منابع مشابه
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity
BACKGROUND: Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. CASE PRESENTATION: A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine g...
متن کاملPrenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion wa...
متن کاملTranslocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability.
PURPOSE The families experienced by occurrence of child with Wolf-Hirschhorn syndrome (WHS: OMIM # 194190) and by other unfavourable pregnancy outcomes (miscarriages or stillbirths/early deaths and partial trisomy 4p imbalance leading to intellectual disability in live born progeny) are asking for genetic counseling. In order to obtain the recurrence probability rates for the particular forms o...
متن کاملReproductive history of a healthy woman with mosaic duplication of chromosome 4p.
OBJECTIVES Mosaic autosomal duplications are rare and often result in mental retardation and congenital anomalies. Phenotype is not predictable depending on the chromosomal imbalance involved and the percentage and tissues distribution of unbalanced cells. We report on a young woman carrying a mosaic duplication of chromosome 4p, evaluated because of three abortions due to IUGR and fetal malfor...
متن کاملFamilial 4;18 chromosome translocation resulting in trisomy 4p and monosomy 18p: affected individuals with discordant phenotype.
Balanced chromosome translocations in either parent increase the risk of recurrent miscarriage, unbalanced chromosome rearrangements, congenital malformations, and mental retardation in liveborn offspring. Chromosome aberrations account for at least 50% of fetal losses prior to 15 weeks’ estimated gestation (EGA). Of these, 60% occur secondary to autosomal trisomies (Gardner and Sutherland, 200...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 14 3 شماره
صفحات -
تاریخ انتشار 1977