1/4. De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly.Interstitial duplications of chromosomal region 1q are rarely seen. We report the first prenatal diagnosis of pure partial trisomy 1q. The fetus was karyotyped for polyhydramnios, micrognathia, and flexion of fingers of both hands. Conventional and molecular cytogenetics showed a de novo direct duplication of the chromosomal region 1q23.1q31.1 leading to a partial trisomy 1q. At autopsy, the fetus showed Pierre Robin sequence (PRS) and camptodactyly. The main histological finding was a decreased number of motoneurons with apoptotic features in the anterior horn of the spinal cord. A literature review and our observations suggest that genetic material mapping to chromosome 1q25 could be responsible for PRS with distal arthrogryposis when this is in triple dose.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/4. First-trimester diagnosis of micrognathia as a presentation of pierre robin syndrome.We describe a case of first-trimester diagnosis of micrognathia. A transvaginal ultrasound scan performed at 13 weeks' gestation revealed an abnormal fetal facial profile consisting of a small mandible and a receding chin. A subsequent amniocentesis at 15 weeks' gestation revealed a normal karyotype. A morphology scan and subsequent postmortem examination at 19 weeks confirmed the first-trimester findings and revealed, in addition to the facial pathology, a complex cardiac abnormality and unilateral talipes equinovarus. These findings are consistent with the diagnosis of pierre robin syndrome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/4. trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.A partial trisomy of the long arm of chromosome number 3 (3q23 3qter) is reported in a malformed male newborn with a Pierre-Robin sequence. The importance of the detection of chromosomal abnormalities towards the nosology of malformation sequences is discussed.- - - - - - - - - - ranking = 4keywords = karyotype (Clic here for more details about this article) |
4/4. Abnormal facies, cleft palate, and generalized dysostosis: a lethal X-linked syndrome.Four boys of the same family (three first cousins and their uncle) had the same syndrome of multiple malformations. They had hypertelorism, antimongolian slant of the palpebral fissures, low-set ears, and pierre robin syndrome. The ossification of the skull vault was defective, with broad sutures and fontanelles. The ribs were sinuous, the clavicles were long, thin, and sloping, and the vertebrae were flattened. There were abnormal bowing with hyperostosis of the long bones, faulty ossification of the bones of hand and feet, and "fanned-out" toes. The disorder was lethal within a few weeks. The karyotype was normal. The mothers of affected boys had a mild form of the same abnormal facies. Transmission of this disorder appears to be linked to the x chromosome.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |