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U Hillig

Publications and source records attributed to U Hillig.

18 recordsLinked to original sources
PubMed2000

FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates.

Accumulating evidence suggests that haploinsufficiency of a dosage-sensitive gene(s) in human chromosome 9p24.3 is responsible for the failure of testicular development and feminisation in XY patients with monosomy for 9p. We have used molecular cytogenetic methods to characterise the sex-reversing 9p deletions in two XY females. Fluorescence in situ hybridisation (FISH) with YACs from the critical 9p region containing an evolutionarily conserved sex-determining gene, DMRT1, is a very fast and reliable assay for patient screening. Comparative YAC mapping on great ape and Old and New World monkey chromosomes demonstrated that the critical region was moved from an interstitial position on the ancestral primate chromosome to a very subtelomeric position in chimpanzee and humans by a pericentric inversion(s). Pathological 9p rearrangements may be the consequence of an evolutionary chromosome breakpoint in close proximity to the sex-reversal region.

Animals↗
PubMed1999

Trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization.

We present a 7-year-old boy with growth retardation, developmental and mental delay, and minor physical abnormalities. The patient had a male karyotype with duplicated material of unknown origin in the long arm of chromosome 17. The origin of the duplicated material was clarified by fluorescence in situ hybridization. Forward chromosome painting showed that the extra material originated from chromosome 2, which was inserted into 17q25. Further characterization of the aberrant chromosome 17 by microdissection and reverse chromosome painting revealed a duplication of bands 2q35 to q37.1. To our knowledge, no other individual with a duplication of this small segment has been described so far. The clinical findings of 13 cases with isolated trisomy 2q are reviewed in relation to the size of the duplicated region. Functional analysis of the duplicated 2q region suggests that critical loci for visceral and central nervous system development in distal trisomy 2q are proximal to 2q33.

Adult↗
PubMed1997

Microdeletion 22q11 in complex cardiovascular malformations.

Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA probe and for associated CATCH features. The patients were from genetic counseling (n = 15) or fetopathology (n = 3) of the Clinical Genetics Department in Marburg and from the Pediatric Cardiology Department (n = 22) in Mainz. Monosomy 22q11 was detected in 9 cases (= 22.5%). Familial transmission with one mildly affected parent and one affected sib each was proven in two cases. The CCVDs comprised complex conotruncal defects such as tetralogy of Fallot, double outlet right ventricle, transposition of great arteries and truncus arteriosus communis, or anomalies of the derivatives of the branchial arch arteries in association with a ventricular septal defect, including one case of atresia of the ductus arteriosus with pulmonary artery aneurysm and resulting in fetal hydrops. All 13 patients with a deletion of 22q11 showed at least one additional CATCH symptom. Most consistently, facial dysmorphy was apparent (92%), while hypocalcemia, mostly at threshold values, was present in 62% and thymic hypoplasia including borderline low T-lymphocyte numbers was observed in 41%. None of the patients presented with a cleft palate. A high intrafamilial variability in expression was also evident with respect to the CCVD. Our findings indicate that seemingly isolated complex cardiovascular defects associated with a 22q11 microdeletion most probably do not represent a distinct subgroup within the CATCH-22 complex but are syndromal in nature with extracardiac features that are often overlooked.

Adolescent↗
PubMed1992

[A child with XYY syndrome as experienced by his mother. A report of daily journal recordings].

A mother's experiencing of the development of her son with "XYY syndrome" is presented based on notes from the mother's diary. According to recent findings in unselected longitudinal studies the boy clearly belonged to a subgroup of the more severely affected children. His developmental language and motor delays, other language problems and problems at school were typical, whereas his slightly reduced IQ, in the lower normal range, and aggressive and autistic symptoms were atypical. In many ways the mother's experience is comparable to that of parents of mentally retarded children. Complicating factors were the inconspicuous phenotype, late diagnosis and lack of professional help. It is shown that parental adaptation to a "handicapped" child can occur in phases. These can be understood through models of mourning or coping. It would be of great help to these families if self-help groups would be established.

Child↗
PubMed1992

[Clinical and cytogenetic problems in diagnosis of fragile X syndrome].

The fragile X or Martin-Bell syndrome is the second most common chromosomal cause of mental retardation. It has a prevalence of 1:1000; the clinical and psychopathologic symptoms vary. The difficult diagnosis rests on cytogenetic evidence of the fragile site at Xq 27.3. 18 patients were tested for fragile X syndrome in 4 different laboratories. Of the 32 chromosomal analyses performed 17 were positive and 15 negative. In 11 patients 2 or more analyses were performed in different laboratories for verification. In all 11 cases the findings were discrepant and therefore the initial findings were considered false positive. The clinical and cytogenetic problems are discussed and diagnostic guidelines summarized.

Adolescent↗
PubMed1991

[Adrenomyeloneuropathy as a cause of Addison's disease].

A 25-year old male, with a 3-year history of spastic paraparesis and a disturbance of bladder emptying, developed Addison's disease (plasma ACTH 1250 pg/ml, depressed cortisol values with loss of diurnal rhythm, potassium 6.8 mmol/l, sodium 123 mmol/l) associated with a urinary tract infection. The suspected diagnosis of adrenomyeloneuropathy was confirmed by the finding of raised plasma long-chain fatty acid concentrations. The patient was immediately given 0.4 mg fludrocortisone as a bolus, followed by 0.1 mg daily maintenance therapy, the urinary tract infection having already been successfully treated. Substitution therapy with hydrocortisone was also initiated (starting dose 30-20-10 mg daily, maintainance dose 20-10-5 mg daily). As a result, the electrolyte concentrations returned to normal and the neurological features improved. A family study was undertaken to determine whether the adrenomyeloneuropathy was an X-linked recessive form. Both the symptom-free mother (carrier) and the 19-year-old brother, who had suffered from Addison's disease since the third year of life, had raised plasma long-chain fatty acid concentrations. Both brothers were started on a diet low in long-chain fatty acids. Estimation of long-chain fatty acids is indicated in boys or young adult males with peripheral neuropathy or Addison's disease of uncertain aetiology.

Addison Disease↗
PubMed1991

[Cheilognathopalatoschisis: its classification and epidemiology].

This article presents a survey of the currently used classification of primary and secondary cleft formations especially from the gentic view. In connection with frequency data a clear distinction is required for the terms: incidence, prevalence and presence. Epidemiologic data, particularly from European countries, are discussed and the conclusion drawn that the data available so far largely represents approximate values. Reliable statistic data are a prerequisite for the evaluation of effect of possible future prevention.

Cleft Lip↗
PubMed1985

On the genetics of the Rett syndrome.

Ever since its recognition as a separate disease, the Rett syndrome has been reported to afflict girls only. For this reason, heredity has consistently remained at the forefront of discussions regarding putative causes. On account of the gravity of the disorder and the want for adequate therapy, the clarification of its genesis is of great practical importance in consideration of the possibility of descendants. J Wahlström reports a breakpoint at Xp22 in two sisters with the disease and in their healthy mother. This finding is questionable as being typical of the syndrome in light of recent chromosomal findings. In addition to Wahlström's two-step-mutation hypothesis, an earlier suggestion of an X-chromosomal dominant new mutation is under discussion again. Further genetic findings are expected from a yet-to-be-completed interpretation of all relevant data hitherto observed in approximately 160 probands and their families.

Child↗
PubMed1980

[Prenatal diagnosis of alpha-1-antitrypsin phenotype. Case record and prognosis in severe alpha-antitrypsin deficiency Pi ZZ (author's transl)].

A mother had a child with cirrhosis of the liver and alpha-1-antitrypsin deficiency. In a subsequent pregnancy the fetal phenotype Pi MZ was detected by isoelectrofocusing in the amniotic fluid. Quantitative assay of alpha-1-antitrypsin gave results in the normal range. Umbilical vein blood analysis confirmed the antenatal findings. In this case it has been possible to rule out the disease before birth. In this context the clinical importance of alpha-1-antitrypsin deficiency is stressed, its frequency in the European and North-American population and the prognosis with phenotype Pi Z.

Female↗