bluuebunny/crossref_metadata_2025 huggingface dataset:
Abnormalities resulting from a familial pericentric inversion of chromosome 18
Authors: Kukolich M. K. , Althaus B. W. , Sears J. W. , Mankinen C. B. , Lewandowski R. C.
Published: July 2010

A female infant is reported with duplication/deficiency of chromosome number 18 due to a familial pericentric inversion of chromosome 18. This patient had many of the classical findings of trisomy 18.
Mosaicism and the trisomy 8 syndrome
Authors: Berry A. C. , Mutton D. E. , Lewis D. G. M.
Published: July 2010

Three new cases of trisomy 8 mosaicism are presented; two have features corresponding with those usually found in this syndrome, whereas one is highly atypical.

In view of the almost universal mosaicism of these patients, the literature is reviewed with an emphasis on the patterns of mosaicism found. There is little correlation between degree of mosaicism and extent of clinical abnormality. The degree of mosaicism differs in different tissues, fibroblasts being more informative of aneuploidy than lymphocytes, and there is some evidence that the degree of mosaicism varies with time. The reasons for these findings are discussed, with particular reference to the raised paternal age found in a proportion of the reported cases.
In vitro studies of the interaction of calcium ions and other divalent cations with the Lp(a) lipoprotein and other isolated serum lipoproteins
Authors: Dahlén G. , Ericson C. , Berg K.
Published: July 2010

The interaction of isolated Lp(a) lipoprotein with different divalent cations was studied and compared to that of other isolated lipoprotein classes.

Purified Lp(a) lipoprotein was found to be most sensitive to the metal ions tested, and the Lp(a) lipoprotein was the only lipoprotein which was precipitated by calcium ions alone. The precipitation apparently depends on the ionic radii of the cations used as well as on the lipoprotein class tested. The precipitation reaction between calcium ions and the Lp(a) lipoprotein, and the interaction between calcium ions and LDL (without precipitation) seem to follow the known rules for small ion ‐ macromolecule interaction reasonably well. The calcium ion ‐ Lp(a) lipoprotein interaction results in a small aggregate. The binding is of ionic type and the precipitation reaction is initially reversible. It was estimated that LDL particles have a mean of 290 equivalent and non‐interacting binding sites for calcium ions.

The above observations concerning the Lp(a) lipoprotein may be of interest in view of the significantly higher frequency of early coronary heart disease in Lp(a+) than in Lp(a‐) individuals, and in view of the previously reported biochemical differences between individuals of different Lp phenotype.
Ring chromosome 5 in two malformed boys with Cri du Chat syndrome
Authors: Suerinck Eliane , Noël Bernard , Rethore Marie Odile
Published: July 2010

Two cases of Cri du Chat syndrome were found to have a ring chromosome 5 in almost all their cells. The lack of the No. 5 short arm p15 band in both cases sufficed to produce the well‐known features.
Hazards of amniocentesis: An unidentifiable fragment
Authors: Lieber Ernest , Shah Paloma , Hack Marilyn
Published: July 2010

A 38‐year‐old woman had amniocentesis performed for advanced maternal age. The karyotype of the cultured amniotic fluid cells showed a minute fragment in all cells analyzed, 47,XY+Fg. The fragment could not be identified. For medical reasons the pregnancy had to be terminated at 34 weeks. Both skin and blood cultures from the aborted fetus showed a 47,XY,21+ karyotype.
Complete trisomy 22
Authors: Shokeir M. H. K.
Published: July 2010

Two unrelated girls, aged 6 and 8 years, respectively, are presented with complete trisomy 22 in the absence of detectable mosaicism. In each case, the extra chromosome has been unambiguously identified as chromosome #22.

The features which were consistent in both girls included: advanced maternal and paternal ages, a history of repeated abortions and stillbirths, normal birthweight with no gross post‐natal growth retardation, mental retardation with further severe deterioration at 3–5 years of age, epilepsy (particularly motor seizures), hypotonia, neurological (especially cerebellar) deficit, and abnormal E.E.G. patterns. The physical stigmata comprised: frontal bossing, hypertelorism, bulbous nose, antimongoloid slant of the palpebral fissures, strabismus, long philtrum, large rotated protruding low‐set auricles, pectus excavatum, and abnormal dermatoglyphics. The clinical course of the disorder was suggestive of a degenerative phenomenon of the central nervous system neurones.
Partial tetrasomy 9 in a liveborn infant
Authors: Wisniewski L. , Politis G. D. , Higgins J. V.
Published: July 2010

An unusual rearrangement of chromosome 9 was identified in a male infant with multiple congenital malformations. The rearrangement appeared as a fusion of two number 9 chromosomes with similar long‐arm breakpoints. Since the infant also possessed two normal 9's, the presence of the additional chromosome resulted in partial tetrasomy: 47,XY, + tdic(9;9)(q22;q22). Clinical and autopsy examinations revealed many features reminiscent of trisomy 13.

The tdic was functionally monocentric, although some evidence of activity at the second centromere was observed. Both parents had normal karyotypes, and C‐banding demonstrated that at least one of the 9h regions on the tdic was likely to be of maternal origin.
Prevalence of thyroid disorder in Down syndrome
Authors: ŠAre Zlatko , Ruvalcaba R. H. A. , Kelley Vincent C.
Published: July 2010

Thyroid function has been studied in 121 patients between 13 and 48 years old with proven Down syndrome. Chemically, hypothyroidism was found in 17 % and hyperthyroidism in 2.5 % of the patients; 18 % of patients had goiter. Thyroid antibodies were detected in 33 % of subjects studied. The abnormal findings were almost equally distributed between the sexes above 20 years of age; however, females had significantly more thyroid disease than males in the younger age group.
Taurodontism and enamel hypomaturation associated with X‐linked abnormalities
Authors: Gage J. P.
Published: July 2010

The association of taurodontism with hypoplastic/hypomature enamel defects is presented in two cases of X‐chromosome aneuploidy (47,XXY) and one of X‐linked recessive Amelogenesis Imperfecta. It appears that the X‐chromosome not only plays some role in tooth size (the degree of taurodontism increasing with increased number of X chromosomes), but probably also plays a role in enamel maturation.
A “new” autosomal dominant genodermatosis characterized by hyperpigmented spots and palmo‐ plantar hyperkeratosis
Authors: Cantú J. M. , Sánchez‐Corona J. , Fragoso R. , Macotela‐Ruiz E. , García‐Cruz D.
Published: July 2010

A previously undescribed genodermatosis consisting of tiny hyperpigmented spots aggregated in irregular maculae and mainly localized in the regions exposed to light is reported. Hyperkeratotic papules in the palms and soles were also present. Autosomal dominant inheritance is concluded.
Sex determination in nuclei of amnion fluid cells
Authors: Schwinger E. , Klimmeck Doris , Hansmann M.
Published: July 2010

Hypotonic treatment of amnion fluid cell‐nuclei was found to enhance demonstration of Y chromatin and of autosomal fluorescence in interphase cell‐nuclei following quinacrine mustard staining. In contrast, visualization of the Barr body was not improved by this treatment. Nuclear sex determination on cellular material from 200 samples of amniotic fluid was unequivocal in 197 cases; in only 3 cases were the findings uncertain. There were no erroneous determinations. In one instance maternal cellular tissue was observed in smear preparations. Nuclear sex determination presents a simple method of supplementing and substantiating prenatal chromosomal diagnosis.
Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness
Authors: Beighton P. , Goldberg L. , Hof J. Op't
Published: July 2010

An Afrikaner kindred in South Africa had a dominantly inherited skeletal dysplasiablindness‐deafness syndrome. The affected individuals had reduced stature and a round, flattened facies. The bone changes resembled multiple epiphyseal dysplasia with additional minor abnormalities in the phalanges, femoral heads and spine. Progressive myopia, retinal thinning and crenated cataracts led to visual disturbance, while conductive deafness represented the third component of the triad. The syndromic significance of associated asteroid hyalosis is uncertain.
The cloverleaf skull
Authors: Yujnovsky Osvaldo , Nyhan Willlam L.
Published: July 2010

A patient presented with the cloverleaf skull, or Kleeblattschadel abnormality. He had a typical trilobed skull with synostosis and a honeycomb appearance on roentgenograms. He had no extracranial skeletal anomalies. The infant died at 1 month of age.
Partial trisomy 6
Authors: Fitch Naomi
Published: July 2010

An infant with partial trisomy 6q is described. He has microcephaly, hypertelorism, a short nose with a flat nasal bridge, a bow‐shaped mouth, micrognathia and digit abnormalities.
Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14) (p11;p11)
Authors: Carnevale Alessandra , Frías Sara , Castillo Victoria del
Published: July 2010

A boy with trisomy of the short arm of chromosome 7 is reported. He presented several congenital malformations, such as: dolicocephaly; wide fontanelle; hypertelorism; antimongoloid slanting of the palpebral fissures; small, carp‐shaped mouth; thin neck; extrinsic compression of the oesophagus; congenital dislocation of the shoulders and hips; and a possible cardiac defect. The proband's mother had a balanced translocation involving the short arm of chromosomes 7 and 14. In this family the translocation has been transmitted through three generations.
The Lp lipoprotein in Japanese
Authors: Morton N. E. , Gulbrandsen C. L. , Rhoads G. G. , Kagan A.
Published: July 2010

The Lp gene frequency is estimated to be 0.083 in Japanese, but with our method of assay the evidence favoring a major locus is marginal. The sinking pre‐β band is significantly associated with elevated cholesterol and depressed triglyceride. The biological significance of these observations is discussed.
Low arylsulphatase A activity in a family without metachromatic leukodystrophy
Authors: Butterworthi J. , Broadhead D. M. , Keay A. J.
Published: July 2010

A low arylsulphatase A activity was noted in the leukocytes and cultured skin fibroblasts of a child without any other symptoms of metachromatic leukodystrophy. Although the mother had a level of arylsulphatase A commensurate with heterozygosity for the classical metachromatic leukodystrophy gene, the father had a variant gene giving an unusually low in vitro level of this enzyme. In combination (the proband), these two genes gave rise to a very low in vitro activity without any apparent disease. In screening for metachromatic leukodystrophy, a low arylsulphatase A level is not necessarily indicative of this disease, if a clinically normal parent shows an unusually low Ievel of this enzyme.
Familial ovarian carcinoma
Authors: Nevo Sarah
Published: July 2010

Ovarian papillary adenocarcinoma is reported in two families. In one family, this tumor was detected in four females, of whom two had had mammary cancer before the development of the ovarian tumor. In the second family, a mother and daughter died of ovarian adenocarcinoma. The mode of inheritance in both families fits the pattern of autosomal dominant transmission of a single gene. Both are Jewish families from Germany, presently residing in Israel. The two families are presented as examples illustrating the difficult question of genetic counselling in families with recurrent cases of ovarian carcinoma. The difficulty arises because this tumor is relatively frequent but is usually observed in isolated cases without systematic follow‐up in the patients' families. Only a few cases, where more than one person in a family is affected, have been selectively reported in the literature.
Stimulation of amniotic fluid cells by fibroblast growth factor
Authors: Chettur Lakshmi , Christensen Ernst , Philip John
Published: July 2010

Amniotic fluid cells were grown in modified Dulbecco's medium with and without the following additives in different combinations: fibroblast growth factor (FGF), dexamethasone (DME), insulin and cyclic GMP under controlled conditions. Experiments were also conducted with varying amounts of foetal calf serum and FGF to establish optimum levels. Comparative growth, determined by measuring 3H‐thymidine uptake, showed that the combination of FGF, DME and insulin in medium with 20 % foetal calf serum produced the highest growth rate. These experiments indicate that the culture time of amniotic fluid cells for chromosome studies could be reduced by 25 %. FGF did not have any deleterious effect on the chromosomes.
Partial trisomy 15 and temporal lobe syndrome in a retarded girl without gross malformations
Authors: Hongell K. , Iivanainen M.
Published: July 2010

A supernumerary small bisatellited chromosome was found in a girl with stunted growth and psychomotor retardation. The extra chromosome was identified as a deleted 15, del(15)(q21), with C‐band positive heterochromatin and satellite‐like appendages to the distal end of the long arm. This chromosome was the product of a translocation between a chromosome 15 and some other acrocentric chromosome, as shown by G‐, C‐ and Q‐banding and silver staining of the nucleolus organizer regions.

The proposita had no gross phenotypic malformations. She had a small head, a high forehead, oblique palpebral fissures, bilateral enophthalmus, clinodactyly and simple dermatoglyphic patterns. She was autistic and suffered from epileptic seizures and expressive aphasia. The waking electroencephalogram revealed diffuse abnormalities; sleep recording showed focal spikes and sharp waves anteriorly on the left side. The pneumoencephalogram showed microventriculy, an enlarged left temporal horn and some enlarged sulci in the right frontotemporal cortex.

The prenatal influence of the chromosome anomaly is interpreted as being the primary cause of these disorders, neonatal asphyxia being a secondary contributing factor.
Biochemical studies on an unusual case of fucosidosis
Authors: Alhadeff Jack A. , Andrews‐smith Grai L. , O'Brien John S.
Published: July 2010

Biochemical studies have been performed on the spleen and liver of a patient suspected of having fucosidosis. The specific, complete deficiency of 4‐methylumbelliferyl (4‐MU)‐α‐L‐fucosidase activity coupled with the massive liver accumulation of polar glycolipids (comparable to those found in a known case of fucosidosis), confirms the diagnosis of fucosidosis. The patient is unusual in that his liver retains 25–50 % of normal α‐L‐fucosidase activity for the p‐nitrophenyl (PNP) substrate. The patient's spleen showed complete deficiency of α‐L‐fucosidase activity for both 4‐MU‐ and PNP‐α‐L‐fucopyranoside. The patient's crude liver α‐L‐fucosidase was not significantly different in thermostability when compared to the crude enzyme from a normal liver.

After partial purification on agarose‐ɛ‐aminocaproyl‐fucosamine and sepharose‐concanavalin A, the patient's liver α‐L‐fucosidase was found to possess both PNP and 4‐MU activities. This suggests that components in the patient's crude liver supernatant may inhibit 4‐MU‐α‐L‐fucosidase activity. This was demonstrated further when the patient's liver supernatant was found to inhibit significantly normal liver 4‐MU‐α‐L‐fucosidase activity. Kinetic and immunochemical characterization indicated that the patient's α‐fucosidase was similar, if not identical, to the normal liver enzyme. Apparent Km's for 4‐MU‐α‐L‐fucopyranoside were determined to be 0.1 mM and 0.12 mM for the patient and normal liver enzyme, respectively. The IgG fraction of antiserum prepared against purified normal liver α‐L‐fucosidase immunoprecipitated 81 % of the patient's α‐L‐fucosidase, suggesting similarity of antigenic determinants.
An XYY boy with short stature and a case of Klinefelter's syndrome (XXY) in a family with inversion 9
Authors: Faed M. J. W. , Lamont M. , Morton H. G. , Robertson J. , Small P.
Published: July 2010

A patient with Klinefelter's syndrome and a boy with XYY sex chromosomes were both found to have a pericentric inversion of chromosome 9. An unusual feature of the XYY patient was that he presented because of short stature and disturbed behaviour. A family study showed that the patients were related and that there was an excess of males in the pedigree. Another member of the family was found to have some XYY cells in the blood.
Johanson‐Blizzard syndrome in a large inbred kindred with three involved members
Authors: Mardini M. K. , Ghandour M. , Sakati Nadia A. , Nyhan William L.
Published: July 2010

An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, microcephaly, and mental retardation is presented as an example of the Johanson‐Blizzard syndrome. The infant failed to thrive and had evidence of malabsorption. He died at 4 months of age. The occurrence of extensive consanguinity in his family and the occurrence of two other members of the kindred with a similar syndrome indicate that this disorder is transmitted by an autosomal recessive gene.
Autosomal recessive inheritance of metaphyseal dysplasia
Authors: Raad M. S. , Beighton P.
Published: July 2010

Two young adults with Pyle disease have been investigated in a large Afrikaner kindred in South Africa. Consanguinity was present in the family, and it is likely that the condition was inherited as an autosomal recessive. This contention is supported by the radiographic demonstration of minor degrees of widening of the distal femora in obligatory and potentially heterozygous relatives.

Apart from genu valgus of moderate degree, the patients enjoyed good health and their gross radiographic skeletal abnormalities contrasted with the innocuous clinical presentation. Differentiation of Pyle disease from the autosomal dominant and autosomal recessive forms of cranio‐metaphyseal dysplasia is of prognostic importance in view of the potentially serious complications in these latter disorders.
Creatine kinase* isoenzyme patterns in Duchenne muscular dystrophy
Authors: Goedde H. W. , Christ I. , Benkmann H. G. , Beckmann R. , Lang H.
Published: July 2010

Serum creatine kinase isoenzymes were studied in 41 patients suffering from Duchenne type muscular dystrophy and 20 mothers of patients (carriers) by cellulose acetate electrophoresis. Both the MM and MB types were found in all cases of Duchenne type dystrophy patients, and in carriers with highly elevated total creatine kinase activity BB was not observed above the detection limits of the methods used. However, a so‐called atypical CK‐BB band has been demonstrated.
Down syndrome in two of three triplets
Authors: Liberfarb Ruth M. , Atkins Leonard , Holmes Lewis B.
Published: July 2010

This is the first report to our knowledge of trisomy 21 in two members of a set of triplets. The two with Down syndrome are monozygous; the other triplet is not identical.

These triplets were born to a 22‐year‐old woman in whose family there have been six sets of twins (four like‐sex) since 1775. Neither parent has any chromosomal abnormality. Zygosity estimates in the triplets are derived from studies of red blood cell antigens and HLA typing.

Twinning has been reported in association with many different chromosome abnormalities. It has been suggested that the incidence of Down syndrome among twins is significantly higher than among singletons. It seems likely that some families have a heritable predisposition to both twinning and chromosome abnormalities.
Autosomal dominantly inherited adductor laryngeal paralysis ‐ a new syndrome with a suggestion of linkage to HLA
Authors: Mace Margaret , Williamson Elspeth , Worgan D.
Published: July 2010

A family is reported with autosomal dominantly inherited congenital bilateral adductor paralysis of the larynx. This disorder has apparently not been described previously. A search for linkage in this family with the loci for 19 other genetic markers showed a suggestion of linkage with HLA and GLO, and accordingly a suggestion that the locus for this disorder may be assigned to chromosome 6.
Spontaneous abortion, sex ratio and facial cleft malformations
Authors: Bear J. C.
Published: July 2010

In family and reproductive data combined from five treatment centers, relating to 861 index cases with cleft lip (with or without cleft palate, CL±P), maternally recognized spontaneous abortions were found to be significantly less frequent in sibships including two or more cases of CL±P than in sibships including only one case.

In data relating to 379 index cases with cleft palate (CP), maternally recognized spontaneous abortions were reduced to a degree short of formal significance in sibships including two or more cases of CP by comparison with sibships including only one case of CP.

The sex ratio among the sibs of parents of CL±P index cases was elevated when the index case was the only affected child and reduced when the index case had one or more affected sibs.

Considered in combination with the results of other investigations, these findings indicate the existence of inherited factors reducing abortion frequency in the sibships of CL±P index cases. These factors appear to be unrelated to those for liability to CL±P.
An unusual form of galactosemia: Studies on erythrocytes and hair roots
Authors: de Bruyn C. H. M. M. , Oei T. L. , Monnens L. A. H. , Trijbels J. M. F.
Published: July 2010

An unusual form of galactosemia is described in a 7‐month‐old boy, characterized by a late onset of the clinical symptoms. A high apparent residual activity of erythrocyte galactose‐1‐phosphate uridyl transferase (GT) was measured with the spectrophotometric UDP‐Glucose consumption test (±25% of normal). The residual activity in erythrocyte lysates, determined when the patient was 7, 16 and 22 months old, significantly decreased upon storage and after preincubation with NAD‐ase. The radiochemical measurement of GT activity demonstrated a severe deficiency: only a level of ± 1% of normal activity was observed, and no effects of storage or NAD‐ase could be demonstrated.

GT and galactokinase (GK) activities were measured radiochemically in lysates from hair roots obtained from the human scalp, and it was found that the GT/GK activity ratio is a useful index for the detection of heterozygotes. Erythrocyte and hair root lysates from the heterozygous parents of the patient displayed GT/GK ratios which were intermediate between mutant and normal. Because they offer a simple and fast way to obtain biopsy material, hair roots might become of increasing importance for carrier detection studies.
Partial 2p trisomy (p21→pter) in two siblings of a family with a 2p‐:15q+ translocation
Authors: Armendares Salvador , Salamanca‐Gómez Fabio
Published: July 2010

Partial 2p trisomy was diagnosed (by the G‐banding method) in two sibs with multiple congenital defects. Their father showed a balanced translocation 46,XY,rcp(2;15)(p21;q26) (so the patients were the result of a paternal adjacent‐1 meiotic segregation). The clinical features of the two affected cases are compared with other cases previously reported of partial 2p trisomy in order to individualize the syndrome.
Development of instruments to measure counselees' knowledge of Down syndrome
Authors: Braitman Alex , Antley Ray M.
Published: July 2010

Since approximately 10 % of counselees coming to genetics clinics are concerned with Down syndrome, the development of short objective measures of knowledge of Down syndrome for evaluation could have widespread application. The purpose of this study was to design efficient, self‐administered questionnaires of simple vocabulary to measure knowledge and understanding of Down syndrome before and after genetic counseling. Twenty‐six previously piloted questions were administered to nurses, graduate students in Medical Genetics, special education teachers, and parents of children with Down syndrome (n = 126). A coefficient alpha of 0.842 indicated strong reliability. The content of the questionnaire was distributed into three categories: genetic knowledge, recurrence risk, and prenatal diagnosis. From the items (1) which had less than 85% correct responses, and (2) which fell into just one of the three categories, 12 questions were selected as a post‐test (coefficient alpha of 0.749). Eight additional questions were then extracted (coefficient alpha of 0.56) as a pretest. The pretest predicted 53.3 % of the variance of the post‐test. The use of these instruments before and after counseling can be an aid in evaluating counseling and in comparing various approaches for effectiveness.
A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities
Authors: Jacobs Patricia A. , Matsuura Janice S. , Mayer Martha , Newlands Irene M.
Published: July 2010

A cytogenetic survey of 475 patients in an institution for the mentally retarded is reported. The chromosomes of all patients were studied using both a non‐banding and a G‐banding technique in order to estimate the relative efficiency of the two techniques in detecting structural rearrangements of the chromosomes.

A total of 57 patients was found to have a chromosome abnormality, including five with a balanced structural rearrangement. The contribution of chromosome aberrations to the etiology of mental retardation is discussed with special emphasis on the contribution of balanced structural rearrangements.
Arginase deficiency in multiple tissues in argininemia
Authors: Michels Virginia V. , Beaudet Arthur L.
Published: July 2010

A 59/12‐year‐old Mexican female with argininemia presented at 4 years of age with severe growth retardation, microcephaly, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram. At follow‐up, blood ammonia was elevated only twice out of 30 determinations. Blood arginine was 544 to 1,074 μmol/1 (normal 61 to 173); cerebrospinal fluid arginine was 88 μmol/1 (normal 6 to 29); and urinary arginine, citrulline and argininosuccinic acid were consistently elevated. Arginase activities in tissues from the propositus were 0.01 mU/mg hemoglobin in erythrocytes (normal 29.8 to 96.1); 9 mU/mg protein in liver (normal 1,522 to 5,491); and 5 mU/mg protein in stratum corneum (normal 2,856 to 7,556). The demonstration of arginase deficiency in liver and stratum corneum suggests a generalized deficiency and helps to explain the elevation of blood arginine. Therapeutic trials of orally administered lysine to enhance dibasic amino acid competition and of enzyme replacement using erythrocyte transfusion did not result in significantly decreased blood arginine or clinical improvement.
Developmental abnormalities associated with long arm deletion of chromosome No. 6
Authors: Bartoshesky Louis , Lewis Michael B. , Pashayan Hermine M.
Published: July 2010

A patient is reported who had a partial terminal deletion of the long arm of chromosome No. 6. His clinical findings included developmental delay, failure to thrive, neurologic abnormalities, and multiple congenital malformations. Among the malformations were unusual facial features, cleft palate, atrial septal defect, and abnormalities of the external genitalia. The patien's features are compared with others who may have material deleted from the long arm of chromosome No. 6.
Femoral hypoplasia—unusual facies syndrome: A genetic syndrome?
Authors: Eastman John Russell , Escobar Victor
Published: July 2010

A new case of femoral hypoplasia—unusual facies syndrome is presented, bringing the total number of cases in the literature to seven. A differential diagnosis involving an environmental phenocopy is presented and the etiology of the syndrome is discussed.
Glutaric aciduria in progressive choreo‐athetosis
Authors: Brandt N. J. , Brandt S. , Christensen E. , Gregersen N. , Rasmussen K.
Published: July 2010

The clinical symptoms in a 10‐year‐old girl with progressive dystonic cerebral palsy are described. The biochemical findings were dominated by large amounts of glutaric acid in the urine. The disorder is caused by impairment of the degradation of glutaryl‐CoA.

A survey is given of the clinical and biochemical symptoms, based on the five cases reported so far. It is concluded that patients with progressive dystonic palsy should be examined for disorders in the metabolism of organic acids.
Alpha‐1‐antitrypsin (Pi)‐types in recurrent miscarriages
Authors: Aarskog Dagfinn , Aarseth Per , Fagerhol Magne K.
Published: July 2010

Chromosome analysis was carried out in a consecutive series of 57 couples with a history of recurrent miscarriage. All 114 subjects from these couples had normal karyotypes by conventional analysis. Pi typing was performed in 30 couples. The constellation of Pi heterozygosity in both partners occurred in two of the couples. The expected frequencies of the observed MS‐MS and MS‐MZ constellations occurring by chance would be 2.1 per 1,000 and 2.2 per 1,000 couples, respectively.
Benign hereditary chorea Clinical and genetic aspects
Authors: Harper Peter S.
Published: July 2010

Five patients from two families in Wales are described who have a benign disorder characterized by lifelong, non‐progressive choreic movements, but without mental deterioration or other features of Huntington's disease. The clinical picture and natural history of this specific disorder are discussed, with particular emphasis on its distinction from Huntington's disease. Genetic data from previously reported kindreds are reviewed, and it is concluded that the disorder follows autosomal dominant inheritance, with reduced penetrance in the female. The importance is stressed of recognizing this disorder and not confusing it with Huntington's disease, if serious errors in prognosis and genetic counselling are to be avoided.
Central nervous system abnormalities ‐ contrasting patterns in early and late pregnancy
Authors: Bell Jeanne E. , Gosden Christine M.
Published: July 2010

A total of 509 specimens of spontaneous abortion were studied. Of 364 complete specimens, 15(4.1%) had central nervous system (CNS) abnormalities. The defects which were seen were anencephaly, spina bifida, iniencephaly, encephalocele and anencephaly combined with complete rachischisis. A high proportion (five out of 15) had the more unusual defects of iniencephaly and encephalocele. All except one had ceased development at less than 12 weeks of gestation. Sex chromatin studies showed that males outnumbered females among CNS defective fetuses. When the month of conception was calculated for these abnormal pregnancies, summer and winter peaks were detected. Only one of the 15 patients had a family history of neural tube defect (NTD).

Histological examination of all small fetuses aborted spontaneously revealed two additional facts. First, in fetuses with a localised external CNS defect, the internal abnormality was more extensive. Second, the CNS was also abnormal in some fetuses with no visible external defect.

The proportion of abnormality is much higher than at birth and is also higher than in other surveys of spontaneous abortion.

We suggest that screening for serum alphafetoprotein should be undertaken and amniocentesis considered in pregnancies subsequent to an abortion of this type.
Testicular testosterone biosynthesis in male Saanen goats with XX sex chromosomes
Authors: Sulimovici S. , Weissenberg R. , Lunenfeld B. , Padeh B. , Soller M.
Published: July 2010

Testosterone biosynthesis was examined in three pairs of twin male Saanen goats. In each pair, one goat was a phenotypically normal male of XY chromosome constitution; the other showed testicular hypoplasia of the sort typically associated with homozygosity for the dominant gene for polledness in genetic females, and was of XX chromosome constitution.

The histological and hormonal situations in the hypoplastic male goats resembled those found in Kleinfelter and XX human males, both in their nature and in their variability. Histological examination of the testes of the hypoplastic XX males showed various degrees of degeneration. In one case a “sperm pocket” full of spermatozoa was observed, and in this case sperm cells with heads separated from tails were observed in the semen. In the other two cases semen was devoid of sperm cells. In two cases plasma testosterone levels of the hypoplastic goats were lower than those of their normal counterparts, in one of the cases much lower. When testicular microsomal fractions of these goats were tested for their in vitro ability to bring about the conversion of androstenedione to testosterone, it was observed that 17β‐hydroxysteroid dehydrogenase activity was either absent or lower in the hypoplastic goats than in their normal twins. In the third pair of animals, plasma testosterone levels were similar in both normal and hypoplastic animals. In this case, however, the increase in testosterone levels following HCG administration was lower in the hypoplastic than in the normal goats. 3β‐hydroxysteroid dehydrogenase was the same in normal and hypoplastic goats. The variable effects on testosterone biosynthesis support the notion that the sex chromosomes, while affecting steroid biosynthesis in the testis, do so indirectly.
Erythrokeratodermia variabilis in a Jewish Kurdish family
Authors: Hacham‐Zadeh Shoshana , Even‐Paz Zvi
Published: July 2010

A Jewish family, originating from Kurdistan and presenting erythrokeratodermia variabilis in three consecutive generations, is described. The major features were the variable age of onset (from early infancy to 6 years) and the distinctive cutaneous lesions with demarcated erythematous hyperkeratotic plaques with irregular borders. The affected members had mild to severe expressions of the disease. The skin lesions were not influenced by puberty, pregnancy or old age. None of the patients had lesions of the palms and soles or abnormal neurological signs.
Large Y chromosome (Yq+) and increased risk of abortion
Authors: Nielsen Johannes
Published: July 2010

Previous reports have indicated an association between Yq+ in the family and increased risk of abortion. In a chromosome investigation of 11,148 consecutively newborn children, we found 58 boys with a large Y chromosome (Y/F ≥ 1.00). The mothers of these boys had 22 % abortions, compared with 13 % among 4,895 mothers of children with normal karyotypes and without Yq+ (P < 0.001).
Branchio‐oto‐renal dysplasia and branchio‐oto dysplasia: Two distinct autosomal dominant disorders
Authors: Meinick M. , Hodes M. E. , Nance W. E. , Yune H. , Sweeney A.
Published: July 2010

Three families are presented, one with branchio‐oto‐renal dysplasia (BOR) and two with branchio‐oto dysplasia (BO). The former syndrome is characterized by external ear malformations, cervical fistulae, mixed hearing loss and renal anomalies of varying severity. The latter syndrome differs in that there are no renal anomalies and that the sensorineural component of the hearing loss may be absent. The external ear malformations are quite variable in both syndromes. Evidence is presented which supports the idea that these two syndromes are not phenotypic variants of the same autosomal dominant mutation but distinct disease entities. The BOR syndrome appears to belong to a larger group of hereditary ear dysplasia‐renal adysplasia syndromes that must be carefully ruled out in all patients with familial branchial arch malformations as well as in the parents and siblings of infants with “Potter fades” in the presence of auricular malformation and renal adysplasia.
Congenital hydrocephalus and cerebellar agenesis
Authors: Riccardi Vincent M. , Marcus Ellen S.
Published: July 2010

In a sibship of three brothers, two expired shortly after birth with congenital hydrocephalus, and necropsy of one revealed cerebellar agenesís and absence of the foramina of Luschka and Magendie. The non‐specificity of the Dandy‐Walker anomaly is discussed, and it is suggested that the present patients demonstrate another form of heritable hydrocephalus, possibly on an X‐linked recessive basis.
Synthetic substrate ß‐glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher's disease
Authors: Wenger David A. , Clark Cameron , Sattler Martha , Wharton Candace
Published: July 2010

A method is described for the identification of patients and carriers of Gaucher's disease, using leukocytes from a small volume of blood. The fluorogenic substrate, 4‐methyl‐umbglliferyl‐β‐D‐glucopyranoside, was assayed in the presence of pure sodium taurocholate (2.5 mg/ml) and Triton X‐100 (2.0 mg/ml). Some commercial brands of pure sodium taurocholate were satisfactory for this purpose. The pH optimum for controls, Gaucher disease carriers and Gaucher disease patients was 5.4 using citrate‐phosphate buffer. Although leukocytes prepared from only a small amount of blood (2–8 ml) are required, there is sufficient quantity for measuring other lysosomal enzymes as controls. Using this method, 12 patients with all types of Gaucher's disease and 12 obligate heterozygotes were identified. Carrier status was predicted in six other family members and ruled out in six others. Eight unaffected people married to Gaucher carriers or Gaucher patients were predicted to be non‐carriers of Gaucher's disease, thereby ruling out children affected with Gaucher's disease in that mating.
A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency
Authors: Aguilar Lydia , Lisker Rubén , Hernández‐Peniche J. , Martínez‐Villar C.
Published: July 2010

Mental retardation, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, with a particular facies and shortened fifth finger were found in a 12‐year‐old Mexican girl. She has six siblings, of whom five have the same characteristics. The parents and the elder sister were not affected, and there was no history of consanguinity. This seems to be a new syndrome, and as both sexes are affected, the parents are normal and several siblings have the same syndrome, we postulate an autosomal recessive mode of inheritance.
Serial duplication of 10 (q11→q22) in a patient with minor congenital malformations
Authors: Vogel Walther , Back Elke , Imm Winfried
Published: July 2010

A boy is reported with mild retardation and minimal dysplasias, carrying a serial duplication of 10(q11→q22). The possible origin of the aberrant chromosome is discussed in the context of similar cases from the literature.
Amniotic fluid cell mosaicism for presumptive trisomy 20
Authors: Rodriguhz M. L. , Luthy D. , Hall J. G. , Norwood T. H. , Hoehn H.
Published: July 2010

Trisomy for an F‐like chromosome with banding characteristics of chromosome 20 was observed, respectively, in 25 and 8% of amniotic fluid cell clones in two cases of prenatal diagnosis for advanced maternal age. No such aneuploidy was found upon examination of fetal or postnatal tissues. In both instances there were no detectable malformations. It is suggested that propensity to nondisjunction for an F‐like chromosome, not unlike tetraploidy, might be another characteristic of amniotic fluid cells in culture.
Humero‐radial synostosis
Authors: Surana Rawatmal B. , Sinkford Stanley M.
Published: July 2010

A sporadic case of humero‐radial synostosis is reported in an infant in whom no other congenital malformations were found. The mode of inheritance of humero‐radial synostosis in our case is not clear, but it might be autosomal recessive.
Galactose‐1‐phosphate accumulation by a Duarte‐transferase deficiency double heterozygote
Authors: Wharton Charles H. , Berry Helen K. , Bofinger Mary K.
Published: July 2010

An infant, suspected of having galactosemia following a positive screening test on dried blood spots, was shown to be a Duarte‐transferase deficiency compound heterozygote through studies of electrophoretic mobility of the transferase enzyme in blood from the patient and family members. No rise in blood glucose was seen following oral ingestion of galactose. At the same time, galactose rose in plasma and was excreted in the urine; galactose‐1‐phosphate accumulated in erythrocytes. A galactose‐free diet was considered the prudent course in the presence of the patient's inability to metabolize galactose completely.
Familial syndrome of progressive cone dystrophy, degenerative liver disease and endocrine dysfunction
Authors: Larsen I. Frøyshov , Hansen E. , Berg K.
Published: July 2010

Six females from two sibships in a family with a high degree of consanguinity and a male from another family are described: all have a new syndrome of total color blindness (progressive cone dystrophy), liver degeneration and endocrine dysfunction.

The patients showed endocrine defects at different levels of regulation. None of the patients had children; two were probably infertile and three had had repeated abortions. Two patients had primary hypothyroidism and another two had low normal thyroid function with protracted thyrotropin‐releasing hormone (TRH) test response, indicating a hypothalamic disorder. A defect in the ACTH reserve, as tested by Metyraponer̀, was found in two patients. Diabetes mellitus of the “maturity‐onset type diabetes of the young” was observed in three patients, and a fourth had a borderline glucose tolerance with further impairment during pregnancy. Hypertension was observed in the diabetic patients. Diabetes was seldom present among the relatives, but hypertension occurred frequently.

Four of the patients had liver degeneration, demonstrated by elevated transaminases and unspecific parenchymal degeneration, fatty infiltration and isolated liver cell necrosis in the biopsy.

All the patients, except the youngest, had progressive hearing loss, classified in four cases as neurogenous and probably cochlear. In the boy, the hearing loss was a neurogenous congenital hypacusis. There were several cases of hearing defects among the relatives, so it is difficult to relate this to the syndrome.

Enlarged sella turcica were found in three, and in one of these an “empty sella” was demonstrated by surgery.

Elevated creatine phosphokinase was also observed. All the different lesions suggest a systemic disorder, possibly a membrane defect.
Familial syndrome of progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction
Authors: Berg Kark , Larsen Ingegerd Frøyshov , Hansen Egill
Published: July 2010

A syndrome of progressive cone dystrophy, endocrine dysfunctions and degenerative liver disease has been observed in seven patients, six of whom belonged to one extensive kindred. Genetic analyses revealed a segregation ratio indicating autosomal recessive inheritance of the syndrome, and the kindred from which six of the seven patients originated was heavily inbred. Thus, the results of the segregation analyses as well as of the inbreeding analyses provide evidence that this previously unrecognized disorder is inherited as an autosomal recessive trait.

Genetic marker analyses were conducted with respect to 22 marker systems, and linkage information was obtained with respect to 15 of them. No strong suggestion of linkage emerged from the analyses, but very close linkage could be excluded for several of the genetic marker systems.

Pedigree analysis was helpful in establishing the spectrum of clinical manifestations belonging to the syndrome proper. The data presently available suggest that elevated levels of creatine phosphokinase, which were found in all patients, may be useful in tracing heterozygotes for this disorder. This possibility will be further examined.
Osteopathia striata with cranial sclerosis. An autosomal dominant entity
Authors: Horan F. T. , Beighton P. H.
Published: July 2010

The syndromic association of striae in the long bones and pelvis, together with sclerosis of the base of the skull, has been investigated in four families. Impairment of hearing and alteration in the shape of the head are the most important clinical manifestations. Spinal abnormalities are an inconsistent feature. The distribution of affected individuals in the kindreds is compatible with autosomal dominant inheritance.
Cystic fibrosis liver sialyltransferase
Authors: Alhadeff Jack A. , Cimino George
Published: July 2010

The activity of sialyltransferase with regard to the glycoprotein substrates asialofetuin and asialo‐ovine submaxillary mucin was determined in normal, pathological control, and cystic fibrosis liver homogenates. Cystic fibrosis and pathological livers have about 40% of the average normal specific activity for sialyltransferase.

Several properties of cystic fibrosis sialyltransferase were investigated and compared to those of the normal liver enzyme (Alhadeff et al. 1977). The pH optima curves were similar, but cystic fibrosis sialyltransferase appears to be more thermolabile than the normal liver enzyme. Isoelectric focusing studies revealed that the three most basic forms of sialyltransferase which are found in normal livers are deficient or absent in most cystic fibrosis livers.

The data suggest that altered glycoprotein‐sialyltransferases may be present in cystic fibrosis livers, probably a secondary effect due to general liver pathology.
Fine structure alterations of elastic fibers in pseudoxanthoma elasticum
Authors: Ross Russell , Fialkow Philip J. , Altman Lawrence K.
Published: July 2010

Examination by electron microscopy of the elastic fibers of individuals with Pseudoxanthoma Elasticum (PXE) revealed that the principal alterations were in the elastin moiety of the elastic fibers. The elastin had a granular appearance, an increased affinity for cationic stains, and it often demonstrated sites of increased density presumed to represent foci of calcification. In contrast to the elastin, the microfibrillar component of the elastic fibers was unchanged, both in morphologic appearance and in distribution. There was no clear correlation between the extent of the morphologic alterations in the elastic fiber and the level of clinical severity. Morphologically altered fibers were often found together with unaltered fibers. Changes similar to those seen in patients with PXE were also found in biopsies obtained from clinically unaffected consanguinous relatives. The pattern of inheritance in several of the families examined was compatible with autosomal recessive, whereas in at least one family a more complex mode of transmission seems likely. The electron microscopic data therefore provide further support for the genetic heterogeneity of PXE.
Prenatal diagnosis of 5p‐
Authors: David Karen , Kaffe Sara , Strauss Lotte , Hsu Lillian Y. F. , Serotkin Andrea , Hirschhorn Kurt
Published: July 2010

With the combination of the various banding techniques (G, Q, and R), a small deletion of the short arm of a No. 5 chromosome was detected prenatally in the pregnancy of a 39–year‐old woman. The deletion appeared to be either interstitial in nature, involving part of p13 and p14, or the result of a translocation with deletion of pl3→pter. Both parents were found to have a normal chromosome constitution with normal banding patterns. Thus, this deletion was a de novo event. Repeat amniotic fluid cell chromosome analysis at the time of elective abortion, and postmortem examination of the fetus confirmed the prenatal cytogenetic diagnosis. We wish to emphasize that precise identification of a small deletion, as in this case, requires a combination of the various banding techniques.
Observations of ridge appearances in a normal population and in Down syndrome patients (21‐trisomy) using the scanning electron microscope: Preliminary report
Authors: Shiono Hiroshi , Muraoka Shigeru , Kazama Hishashi , Kadowaki Jun‐ichi
Published: July 2010

A celluloid plate containing a drop of amyl acetate was pressed to the skin. The impression thus obtained was coated with carbon and gold and observed under the scanning electron microscope. Impressions from the fingers of the normal population showed the crests and furrows of the finger prints clearly. The impressions from the fingers of Down syndrome patients were a mixture of the normal crests and furrows and of hypoplastic crests and furrows.