1/7. Intracytoplasmic sperm injection pregnancy with trisomy 20p and monosomy 22q in a newborn resulting from a balanced paternal translocation.In infertile men who carry a balanced reciprocal translocation, intracytoplasmic sperm injection (ICSI) may induce a pregnancy with an abnormal karyotype. This report describes a previously unreported paternal reciprocal translocation leading to a chromosomally unbalanced ICSI pregnancy. The triplet pregnancy resulted in 1 normal girl, 1 physically normal boy with the same balanced paternal translocation, and a severely malformed boy with trisomy 20p and monosomy 22q who died in the neonatal period.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/7. Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis.We report a de novo translocation between chromosome 15 and 18 resulting in monosomy 18p in prenatal diagnosis. The patient was referred for amniocentesis due to increased nuchal translucency (INT) (5 mm) at 13.6 weeks of gestation. Karyotype of the fetus revealed 45,XX,der(15;18)(q10;q10) in all metaphases. The targeted fetal ultrasound at 20 weeks of gestation did not show any special physical abnormalities other than 6.4 mm of nuchal fold thickness. Molecular cytogenetic findings using CGH and FISH confirmed the del(18p) with dicentromeres from both chromosome 15 and 18. The present study shows that the INT at first trimester was the only prenatal finding for the fetus with del(18p) syndrome and that molecular cytogenetic methods are useful for detecting chromosomal aberrations precisely.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/7. autopsy findings of a 37-year-old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20.We report on the autopsy findings of a 37-year-old man with a complex karyotype (mos46,XY,del(18)(p11.1)[14]/46,XY, -13, del (18)(p11.1), 20[8]/47,XY,del(18)(p11.1), 20[8]). He was known to be blind, non-ambulatory, have severe mental retardation, and a seizure disorder. External physical findings at the time of autopsy included micrognathia, short stubby fingers, and rocker bottom feet. Left lobe dominance of the liver and mislocation of the ileocecal junction and appendix were noted on internal examination. The brain was small (700 g) and poorly developed. Microscopically it showed an absence of neurons in the olivary and dentate nuclei, absence of purkinje cells in the cerebellum, severe depletion of internal granular cells in the cerebellum, and cerebellar dysplasia. Fat infiltration was noted in an unusual distribution in several organs including a pattern in the heart consistent with arrythmogenic right ventricular dysplasia (ARVD). Findings of this mosaic chromosomal karyotype have not been previously described. This report will discuss this individuals physical findings and their relation to similar monochromosomal aberrations.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
4/7. Physical and developmental phenotype analyses in a boy with wolf-hirschhorn syndrome.wolf-hirschhorn syndrome (WHS) is a rare genetic condition with characteristic facial traits, organ malformations, functional impairment and developmental delay due to partial short arm monosomy of chromosome 4. Although several hundreds of cases have been published to date, a systematic collection of its clinical symptoms and anthropological traits is missing in the literature, and reports on abilities and needs of children with WHS are scanty. Results of detailed physical and developmental phenotype analyses in a 1 10/12-year-old boy with monosomy 4p15.2-pter are presented. Physical analyses were based on systematic data acquisition. They disclosed a total of 32 clinical symptoms and 46 anthropological traits. Developmental analyses were based on the child's interactive play in an environment structured according to Montessori principles. They disclosed a total of 44 abilities and a number of needs to be satisfied by the environment for the support of the child's psychic and intellectual growth. While the physical phenotype is important for the diagnostic process, the developmental phenotype is essential for parental counseling.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
5/7. Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.Genomic single-copy dna fragments were used to characterize an undetected chromosome translocation in an individual whose metaphase chromosome analysis revealed apparent monosomy 21. Eight RFLPs detected by six probes were used to identify homologous sequences from chromosome 21 in dna digests from the proband and her parents. These family studies showed that the proband was disomic for the distal region of 21q. Reverse banding and in situ hybridization of chromosome 21-specific probes to metaphase chromosomes from the proband revealed a de novo translocation with breakpoints at 5p13 or 14 and 21q11 or 21. in situ hybridization permitted orientation of the translocated portion of chromosome 21 on the derivative chromosome 5 and, in conjunction with molecular analysis and previous mapping studies, refined the physical map for the long arm of chromosome 21.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.A patient is described with partial trisomy 9p and partial monosomy 8p due to a maternal translocation (t(8;9)(p23;p13)). The clinical phenotype is compatible with the partial trisomy 9p syndrome. This is a clinically recognizable syndrome with mental retardation as a constant feature. Little is known about the outcome and level of functioning of patients with this condition. We present the follow-up of a patient with partial trisomy 9p who has been regularly examined from birth until age 10 years.- - - - - - - - - - ranking = 4keywords = physical (Clic here for more details about this article) |
7/7. trisomy 12/monosomy X/normal female mosaicism: prenatal detection and confirmation in a liveborn.We report a case of mosaicism for three cell lines: 45,X, 46,XX, and 47,XX, 12, diagnosed prenatally by amniocentesis done for advanced maternal age. Cord blood from the baby showed mosaicism for 45,X and 46,XX; cultures derived from multiple placental sites, villi, cord, membrane, and skin had varying proportions of all three cell lines. The patient at 18 months of age has mild physical dysmorphisms, hypotonia, delay in gross motor development, and age-appropriate cognitive development. The literature reveals variable outcomes for individuals with either mosaic trisomy 12 or mosaic turner syndrome. Parental origin of the chromosome involved in a proposed corrected trisomy and/or the percentage of cell types in affected organs might account for the variability in outcomes seen.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |