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At least 235 records · Page 13Linked to original sources
PubMed1978

Incomplete testicular feminization with multiple congenital abnormalities.

A female infant presented with absent vagina and uterus, absent left kidney, absent right gonad, growth failure, mental retardation, seizure disorder, and facial, limb, and hand anomalies. The chromosome karyotype was 46, XY in her blood and cultured cells, including cells from the sites of both gonads. Her H-Y antigen was positive. Specific dihydrotestosterone binding was reduced in cells from a labial skin biopsy. The case might be due to a minute deletion of the short arm of the X chromosome, resulting in loss of a gene for androgen receptors and of adjacent chromosomal material responsible for the growth failure and the somatic and neurologic anomalies.

Abnormalities, Multiple↗
PubMed1984

A family with multiple musculoskeletal abnormalities.

A family with multiple musculoskeletal abnormalities is reported. The disorder is characterised by platyspondyly, abnormality of the upper femoral epiphyses, and the development of precocious osteoarthritis. It is proposed that this family represents an example of autosomal dominantly inherited spondyloepiphyseal dysplasia tarda (SED tarda).

Adolescent↗
PubMed2005

Complex de novo cryptic subtelomeric rearrangements in a fetus with multiple ultrasonographic abnormalities and a normal karyotype at amniocentesis.

OBJECTIVE: Prenatal diagnosis is usually offered to the majority of pregnancies with fetal structural abnormalities detected by prenatal ultrasound; however, only a small proportion show an abnormal karyotype. We wanted to detect cryptic subtelomeric rearrangements (CSTR) in a fetus with multiple abnormal ultrasonographic findings that revealed a normal karyotype at amniocentesis. METHODS: Fetal chromosome analysis was performed from amniotic fluid cells. Parental chromosome analysis was done on PHA stimulated lymphocyte cultures. For fluorescence in situ hybridization (FISH) analysis, ToTelVysion multicolor DNA probe mixture was used to hybridize the p and q telomeres of each chromosome. RESULTS: The amniotic fluid chromosome analysis revealed an apparently normal 46,XY karyotype. A follow-up FISH analysis showed three apparently balanced complex translocations involving (1) the chromosome 4p and 22q telomeres (2) 4q and 11q telomeres and (3) 8p, 20p and 20q telomeres. Parental chromosome and subtelomere FISH analysis was found to be normal. CONCLUSION: To our knowledge, this is the first report of complex de novo cryptic translocations in an abnormal fetus. These CSTR identified by FISH with subtelomere-specific probes are not detected by other cytogenetic and/or molecular cytogenetic approaches. However, to confirm the balanced nature of CSTR, array-CGH can be helpful. Further studies are in progress to determine the frequency of CSTR and its significance in the etiology of fetal abnormalities.

Abnormalities, Multiple↗
PubMed1994

Extended cytogenetic follow-up and clinical progress in patients with myelodysplastic syndromes (MDS).

198 patients with MDS were followed cytogenetically for up to 90 months. There were significant differences in survival between patients with a normal karyotype, single abnormalities (p < 0.05) and multiple abnormalities (p < 0.0001). Survival differences were also seen in each of the FAB sub-types but were only significant in RAEB/RAEB-t and CMML (p = 0.001) where a normal karyotype was associated with prolonged survival. Single and multiple abnormalities of chromosomes 7 and 8 but only multiple abnormalities of chromosome 5 were also associated with reduced survival. 126 patients were successfully investigated on more than one occasion. Karyotype evolution occurred in 15 and was associated with reduced overall survival in those patients who had previously been karyotypically normal (p < 0.05). Median survival following evolution was only 10 months. 29 patients developed leukaemia. The incidence of transformation was significantly higher in patients with multiple abnormalities than in those with a normal karyotype (p < 0.05) or single abnormalities (p < 0.05).

Adult↗
PubMed1979

Ultrasound diagnosis of fetal abnormalities in multiple pregnancy.

Over a period of four years, 41 cases of abnormal multiple pregnancies were diagnosed successfully by ultrasound. These include several rare combinations of abnormalities. The most frequent was a normal pregnancy and a synchronous blighted ovum. Others were twin blighted ova, blighted ovum and missed abortion, missed abortion in both gestational sacs, two embryonic echoes with the development of only one baby, normal fetus and an anencephalic twin, normal fetus and fetus papyraceous, and triplets with two fetuses papyraceous. The results suggest that one or more gestational sacs may be resorbed during pregnancy without any adverse effect on the coexisting normal fetus. From a practical point of view, it is important to be aware of these possibilities before giving the final diagnosis of multiple pregnancy to the patient. The more diagnostic ultrasound is used in obstetrics, the more rare abnormalities associated with multiple pregnancies will be revealed.

Abortion, Missed↗
PubMed1986

A multidimensional threshold model for multiple congenital abnormalities.

Analysis of the data of 2.762 infants with "unidentified" (i.e., no identified as dysmorphological entities) multiple congenital abnormalities from the Hungarian Congenital Malformation Registry, 1970-1976 showed that the majority of congenital abnormalities in newborns with multiple congenital abnormalities was not due to random combinations. The ratio of expected random combination and observed causal effect was 1: 6, 1: 225-1: 14,000 and 1: 2.10(6) in two, three, four, and five or more congenital abnormalities, respectively. Our multidimensional threshold model supposes specified liabilities for each congenital abnormality, and the correlation structure of these liabilities explains nearly all associations of congenital abnormalities in unidentified multiple congenital abnormalities. According to this hypothesis, the expected and the observed occurrences do not differ significantly either in the sum or in the various possible threefold associations of congenital abnormalities. The biological reasons for the phenomenon are being studied.

Abnormalities, Multiple↗