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Biomedical subjects

I D Young

Publications and source records attributed to I D Young.

At least 91 records · Page 5Linked to original sources
PubMed1990

Prenatal diagnosis of trisomy for the distal two-thirds of the long arm of chromosome 14 (q21----qter).

A de novo case of 'pure' trisomy 14q21----qter is described which was detected at amniocentesis following an abnormal ultrasound scan of a 25-year-old woman. This is apparently the largest distal 14q duplication reported in a case surviving beyond the first trimester. The infant appeared to have an association of clinical abnormalities previously observed in distal 14q trisomy and proximal 14q trisomy/mosaic trisomy 14.

Adult↗
PubMed1990

Down's syndrome and fragile-X syndrome in a single patient.

A profoundly mentally handicapped patient is described with the karyotype 47,X, fra (X) (q27), + 21. Her phenotype demonstrates features of both Down's Syndrome and fragile-X syndrome. The authors believe only one other similar case has been described.

Adult↗
PubMed1990

Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?

Two cases of Smith-Lemli-Opitz syndrome type II are presented. During the late stages of both pregnancies maternal oestriol levels were unrecordable and there was evidence of suppression of maternal adrenal function. We speculate on the existence of a primary defect in the fetal adrenals.

Abnormalities, Multiple↗
PubMed1990

Ocular findings in Angelman's (happy puppet) syndrome.

Patients with Angelman's syndrome have been reported to have ocular hypopigmentation and a number are now known to have a microdeletion of chromosome 15q 11----13. Detailed ocular examination of eight new cases revealed normal visual acuity and foveal reflexes, but a pigmentary deficiency which is limited to the choroid and iris stroma--both of neural crest origin. Patients with Prader-Willi syndrome have similar ocular features and many have a microdeletion of chromosome 15q 11----13. It is therefore possible that this region may influence neural crest development.

Abnormalities, Multiple↗
PubMed1989

The ultrastructural localization of sulfated proteoglycans is identical in the amyloids of Alzheimer's disease and AA, AL, senile cardiac and medullary carcinoma-associated amyloidosis.

The cationic dyes cuprolinic blue and ruthenium red were used to ultrastructurally localize proteoglycans (PGs) within the neuritic plaque and neurofibrillary tangle of Alzheimer's disease. Highly sulfated PGs were specifically localized to the amyloid fibril of the neuritic plaque and the paired filaments of the neurofibrillary tangle. This demonstrates that highly sulfated PGs either comprise part of the Alzheimer's amyloid fibril and paired filament or are intimately associated with them. Four unrelated types of amyloid--AA (inflammation-associated), AL (immunoglobulin light chain), senile cardiac (prealbumin) and medullary carcinoma-associated amyloid (procalcitonin)--showed an identical pattern of localization of highly sulfated PG to the different amyloid fibrils. This constant close spatial relationship between PGs and diverse amyloid proteins suggests that PGs may play a role in amyloidogenesis.

Alzheimer Disease↗
PubMed1989

Thanatophoric dysplasia in identical twins.

Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.

Diseases in Twins↗
PubMed1989

Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome.

The ultrasonographic and necropsy findings in a male fetus with the megacystis-microcolon-intestinal hypoperistalsis syndrome are reported. The presence of vacuolation and degeneration in smooth muscle of bowel and bladder wall supports a previous suggestion that the macroscopic findings in this syndrome are the consequence of an underlying visceral myopathy. The unusual degree of severity of the findings in this fetus may explain the marked skewing of the sex ratio observed in affected liveborn infants.

Colon↗
PubMed1989

Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome.

A lethally malformed neonate with mosaic tetrasomy 12p is presented. This is the third reported case of mosaic tetrasomy 12p to have died in the neonatal period. These three babies have shown a consistent phenotype characterized by dysmorphic facies and large diaphragmatic hernia. Mosaic tetrasomy 12p is usually not detectable from lymphocyte investigation, indicating that chromosome studies from cultured fibroblasts should be undertaken in neonates with multiple malformations which include a diaphragmatic defect.

Abnormalities, Multiple↗
PubMed1989

The association of pulmonary hypertension with rheumatoid arthritis.

Pulmonary hypertension due to vasculitis is a rare complication of rheumatoid arthritis (RA). We describe 2 patients with RA and pulmonary hypertension who died with a clinical diagnosis of idiopathic pulmonary hypertension. In each case postmortem examination revealed severe pulmonary vasculitis as the actual cause of the hypertension. Subclinical systemic vasculitis was found in one case and hepatic nodular regenerative hyperplasia in both cases. Pulmonary vasculitis must be included in the differential diagnosis of pulmonary hypertension associated with RA. Open lung biopsy should be considered in this clinical setting in an attempt to identify this potentially treatable cause of pulmonary hypertension.

Adult↗
PubMed1988

Discordant expression of the G syndrome in monozygotic twins.

We present clinical manifestations of monozygotic male twins with different degrees of expression of the G syndrome. Monozygosity was confirmed using DNA mini-satellite "fingerprint" analysis. The findings in these twins suggest that expression of the G syndrome can be strongly influenced by the prenatal developmental environment.

Abnormalities, Multiple↗
PubMed1988

A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion.

A 7 3/4-year-old girl with short stature was found to have a recombinant (X),dup q chromosome resulting from an apparently unique pericentric inversion (X)(p11.2q26) present in her mother and maternal grandmother. The recombinant X chromosome was shown to be late replicating and the inversion X chromosome to be randomly inactivated. This appears to be only the eighth report (7 female, 1 male) of a recombinant resulting from an X pericentric inversion despite all diagnosed females having mild clinical abnormalities. Reasons for the rarity of such recombinant X chromosomes in man are examined.

Child↗