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At least 199 records · Page 11Linked to original sources
PubMed1989

Multiple congenital abnormalities identifiable on 99Tcm HIDA scan.

We present a case in which three congenital abnormalities, in separate organ systems, were identifiable on a 99Tcm HIDA scan. The patient probably had Ivemark syndrome with dextrocardia (confirmed by chest radiograph), horseshoe kidney (confirmed by 99Tcm DTPA scintigraphy), and biliary atresia (confirmed on the HIDA scan). He also probably had asplenia, as suggested by the HIDA scan, although this was not confirmed.

Abnormalities, Multiple↗
PubMed1979

Multiple genitourinary abnormalities in females with unilateral renal agenesis: three cases.

We have the means to identify over 75% of infants and children with unilateral renal agenesis. It has been established that all patients with unilateral renal agenesis must be followed closely because of problems with the remaining kidney and other anomalies. It is apparent from embryologic studies and numerous reports that up to 89% of females with unilateral renal agenesis are likely to have significant accompanying genitourinary abnormalities. Most of these patients' genital problems occur at the time of puberty or pregnancy. Because of our experience with three teenage females who had unilateral renal agenesis and subsequent serious problems, we wish to advocate a prepubertal aggressive investigation.

Abnormalities, Multiple↗
PubMed2000

Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL.

There is increasing evidence that cytogenetically invisible chromosome rearrangements are an important cause of genetic disease. Clues to the chromosomal location of these rearrangements may be provided by a specific clinical diagnosis, which can then be investigated by targeted FISH or molecular studies. However, the phenotypic features of some microdeletion syndromes are difficult to recognise, particularly in infants. In addition, the presence of other chromosome aneuploidy may mask the typical clinical features. In the present study, the presence of tubers on cranial magnetic resonance imaging (MRI) of a 5-week-old infant prompted an investigation, by FISH, with probes from the tuberous sclerosis gene, TSC2. This and further FISH deletion mapping studies revealed a submicroscopic deletion encompassing the entire TSC2 gene and the adjacent PKD1 gene on one chromosome 16, confirming a del(16)(p13.3). Because of the large number of abnormal phenotypic features in this infant, we performed a 12-colour FISH assay (M-TEL) to screen for subtelomeric rearrangements involving the del(16p). The M-TEL assay revealed a cryptic der(16)t(16;19)(p13.3;p13.3). Further FISH with 19p and 19q subtelomeric probes demonstrated that this was derived from a balanced maternal t(16;19)(p13.3;p13.3). Importantly, 24-colour painting by multiplex FISH (M-FISH) failed to detect the translocation in either the infant or his mother. Based on our FISH mapping studies, we estimate the size of the trisomic region from 19p13.3 to be approximately 2 Mb, and the region of monosomy for 16p13.3 as 2.25 Mb. This case adds to the growing literature which indicates that many apparent chromosomal deletions are unbalanced translocations. The M-TEL assay provides a sensitive alternative to M-FISH for the detection of these subtle telomeric rearrangements.

Abnormalities, Multiple↗
PubMed1998

Multiple neurological abnormalities in mice deficient in the G protein Go.

The G protein Go is highly expressed in neurons and mediates effects of a group of rhodopsin-like receptors that includes the opioid, alpha2-adrenergic, M2 muscarinic, and somatostatin receptors. In vitro, Go is also activated by growth cone-associated protein of Mr 43,000 (GAP43) and the Alzheimer amyloid precursor protein, but it is not known whether this occurs in intact cells. To learn about the roles that Go may play in intact cells and whole body homeostasis, we disrupted the gene encoding the alpha subunits of Go in embryonic stem cells and derived Go-deficient mice. Mice with a disrupted alphao gene (alphao-/- mice) lived but had an average half-life of only about 7 weeks. No Goalpha was detectable in homogenates of alphao-/- mice by ADP-ribosylation with pertussis toxin. At the cellular level, inhibition of cardiac adenylyl cyclase by carbachol (50-55% at saturation) was unaffected, but inhibition of Ca2+ channel currents by opioid receptor agonist in dorsal root ganglion cells was decreased by 30%, and in 25% of the alphao-/- cells examined, the Ca2+ channel was activated at voltages that were 13.3 +/- 1.7 mV lower than in their counterparts. Loss of alphao was not accompanied by appearance of significant amounts of active free betagamma dimers (prepulse test). At the level of the living animal, Go-deficient mice are hyperalgesic (hot-plate test) and display a severe motor control impairment (falling from rotarods and 1-inch wide beams). In spite of this deficiency, alphao-/- mice are hyperactive and exhibit a turning behavior that has them running in circles for hours on end, both in cages and in open-field tests. Except for one, all alphao-/- mice turned only counterclockwise. These findings indicate that Go plays a major role in motor control, in motor behavior, and in pain perception and also predict involvement of Go in Ca2+ channel regulation by an unknown mechanism.

Abnormalities, Multiple↗
PubMed2006

Accessory scrotum with multiple skeletal abnormalities.

Accessory scrotum is very uncommon. Here we report a 5-year old Caucasian boy presenting with an accessory scrotum localized to the left side of the pubic area. The penis and the primary scrotum were completely normal, containing two dependent testicles. On the right side of the body there was type B proximal femoral focal deficiency and there was also diastasis of the symphisis pubis. As observed in this case, abnormalities of two different embryological organ systems (accessory labioscrotal fold and proximal femoral focal deficiency) may occur concurrently at the same intrauterine time point as part of an overall embryologic mesenchymal disorder.

Abnormalities, Multiple↗
PubMed1975

Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome.

A severely mentally retarded man displayed the following main symptoms: short stature, microcephaly, antimongoloid slant of palpebral fissures, big ears with hyperplastic helices, imperfect dental enamel, short and webbed neck, short arms, short hands, brachymetaphalangy, short second fingers, broad thumbs, short metatarsal bones, and unusually big first toes. It seems almost certain that the syndrome was caused by a chromosome deletion involving about half of 12p which was present in all of the lymphocytes examined.

Abnormalities, Multiple↗
PubMed1977

Mosaicism presumably related to a Y/6 translocation in a boy with multiple congenital abnormalities.

A 3 1/2-year-old boy was referred for chromosomal evaluation because of mental and developmental retardation, peculiar facies, and abnormalities of the extremities. Karyotype analysis disclosed the presence of 46 and 47 chromosome cell lines. The 46 chromosome line contained 4 normal G group chromosomes and an abnormally small Y identified by G banding. Further investigation with Q and C band techniques revealed that the missing segment of the Y, the distal long arm, had been translocated to the end of the long arm of a number 6 chromosome. This de novo rearrangement appeared to be balanced and was found in all cells examined. The 47 chromosome line, which had a frequency of 10% in the patient's leucocytes, was identical to the 46 line except for the presence of an additional copy of the small chromosome. The morphology and banding patterns of the two small acrocentrics in the aneuploid line were found to correspond to those of the der (derivative) Y in the euploid line. The cytogenetic findings suggest that the translocation was followed by non-disjunction of one of its products resulting in mosaicism. Possible causes for the clinical and karyotypic abnormalities are discussed.

Abnormalities, Multiple↗
PubMed1996

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

An unusual familial case of three sibs with a partial duplication of distal Xp sequences is described. The proband, an 18 year old boy, showed mental retardation, severe dysmorphic features, hypogonadotrophic hypogonadism (HHG), and hypoplastic external genitalia. His karyotype was 46,Y,inv dup(X) (p22.11-->p 22.32). The proband has two sisters each with the same inv dup(Xp) chromosome. Both sisters presented with short stature but were otherwise phenotypically normal. The abnormal X chromosome was inactive in the majority of cells examined. Southern blot dosage analysis indicated a duplication of distal Xp sequences. The proximal breakpoint is located between DXS28 and DXS41, and is therefore at least 2 Mb distal to the DSS locus. The relationship between the phenotype and the Xp duplication is discussed.

Abnormalities, Multiple↗