bluuebunny/crossref_metadata_2025 huggingface dataset:
Dominantly inherited syndrome of microcephaly and congenital lymphedema
Authors: Leung Alexander K. C.
Published: July 2010

A Chinese family is reported in which microcephaly and congenital lymphedema have been observed in at least 4 generations. This combination of symptoms can be presumed to represent a rare but well defined hereditary syndrome transmitted by an autosomal dominant gene.
DNA polymorphism of the RC8 probe on the X‐chromosome: Identification of a new DNA variant with the Taql enzyme
Authors: Børresen A.‐L. , Jordfald A.‐B. , Berg K.
Published: July 2010

Restriction fragment length polymorphisms detectable with the RC8 probe, a probe for an area located on the short arm of the X‐chromosome, and loosely linked to the locus for Duchenne muscular dystrophy, have been studied in a Norwegian population. With the Taql enzyme three variants were observed. The gene frequencies of the previously detected variants were 0.867 and 0.082, respectively, and the frequency of a new variant was 0.051. Family studies confirmed Mendelian inheritance of the variants.
Oculo‐palato‐cerebral dwarfism: a new syndrome
Authors: Frydman Moshe , Kauschansky Arieh , Leshem Israel , Savir Hanna
Published: July 2010

Three of four offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities, cleft palate, persistent hypertrophic primary vitreous, and short stature. In one patient brain atrophy was documented. All the affected individuals had severe asthma and it is thought that the asthma is associated with the syndrome complex. Genetic transmission is most likely autosomal recessive. We believe this constellation of findings to be a new genetic syndrome and have termed it the oculo‐palato‐cerebral dwarfism syndrome.
Familial clefting syndrome with ectropion and dental anomaly — without limb anomalies
Authors: Allanson Judith E. , C.McGillivray Barbara
Published: July 2010

Three generations of a family are described in which cleft lip and/or cleft palate, ectropion of the lower eyelids and conical teeth, subject to premature carious decay, occur in various combinations in different family members, in a manner consistent with autosomal dominant inheritance.
Indication against genetic localisation of the human transcobalamin II gene (TC2) on chromosome 16
Authors: Gallmann Martin , Fráter‐Schröder Marijke , Scheffrahn Wolfgang , Ott Jürg , Schmid Balthasar , Butler Esther , Biedermann Vreni , Kierat Lucja
Published: July 2010

The genetic locus of human transcobalamin II (TC2) is not yet known. The mouse transcobalamin II gene has been assigned to mouse chromosome 11, linked to hemoglobin A. This fact suggested a similar linkage of transcobalamin II in man, assigning it thus to human chromosome 16.

Our linkage investigation in a family material of more than 600 individuals demonstrated absence of linkage between transcobalamin II and phosphoglycolate phosphatase, which is very closely linked to hemoglobin A on chromosome 16. Additionally we confirmed absence of linkage with the chromosome 16 gene marker system haptoglobin. These two gene marker systems are located far from each other, and the total length of chromosome 16 is estimated only about 100 cM. Together with recent results of investigations in somatic mouse‐man cell hybrids, we conclude that TC2 is not located on chromosome 16.

Additionally we found absence of linkage between transcobalamin II and 6‐phosphoglucona‐te dehydrogenase, rhesus blood group (both on chromosome 1), GC (chromosome 4), Esterase D (chromosome 13) and AG; absence of close linkage with “debrisoquin polymorphism”.
The effect of consanguineous marriages on reproductive wastage
Authors: Al‐Awadi S. A. , Naguib K. K. , Moussa M. A. , Farag T. I. , Teebi A. S. , El‐Khalifa M. Y.
Published: July 2010

A stratified representative sample size of 5,007 Kuwaiti females aged 15 years and above was drawn during 1983 and structurally interviewed to study the influence of consanguineous marriages (up to the second cousin) on reproductive wastage. Losses comprised prenatal deaths (abortions and stillbirths) and neonatal deaths (up to the first month of life). The rate of consanguineous mating in the sample was 54.3% with 95% confidence limits estimated rate 52.9% to 55.7% when projected over the whole Kuwaiti population. First cousin marriages accounted for 30.2% of the sample followed by 22.1 % less than first cousin (first cousin once removed and second cousins) and 2% only double first cousin. The study showed higher prenatal and neonatal losses among consanguineous (14.2%, 2.97%) than nonconsanguineous (13.97%, 2.54%) although not statistically significant. No consistent increase in reproductive wastage was evident as the inbreeding coefficient, F, advances mainly because of decline in the wastage rate among the double first cousin marriages which represents only 2% of our sample.
DNA polymorphisms around the apo Al gene in normal and hyperlipidaemic individuals selected for a twin study
Authors: Kessling A. M. , Berg K. , Mockleby E. , HUMPHRIES S. E.
Published: July 2010

We have investigated the allele frequencies, in a Norwegian population, of two restriction fragment length polymorphisms (RFLPs) in the apolipoprotein (apo) AI‐CIII‐AIV gene region. The study group consisted of clinically well twins and their unrelated spouses. In the normotri‐glyceridaemic individuals tested, the frequency of the rare allele (S2) of the RFLP detected using the restriction enzyme Sst I was 0.17; for the RFLP detected with the enzyme Xmn I, the rare allele (X2) frequency was 0.06. The frequency of the S2 allele was lower in individuals with serum triglyceride levels above 1.7 mmol 1‐1, but this was not statistically significant. Conversely, the frequency of the X2 allele was higher in individuals with raised serum triglyceride levels, but similarly, did not reach statistical significance. Taken together with the data from our previous study on UK individuals, these results support the suggestion that inherited variations in this apolipoprotein gene cluster are involved in the determination of serum triglyceride levels.
Segregation analysis of brown oculocutaneous albinism
Authors: King Richard A. , Rich Stephen S.
Published: July 2010

The segregation of brown (type IV) oculocutaneous albinism was analyzed in 18 Nigerian families. Analysis using the POINTER program showed that this type of oculocutaneous albinism was inherited in an autosomal recessive pattern, with an estimated gene frequency of 0.025 ± 0.007 in this population. The enzyme defect responsible for brown oculocutaneous albinism is unknown.
Dermatoglyphic peculiarities in families with X‐linked mental retardation and fragile site Xq27: a collaborative study
Authors: Rodewald A. , Froster‐Iskenius U. , Kab E. , Langenbeck U. , Schinzel A. , Schmidt A. , Schwinger E. , Steinbach P. , Veenema H. , Wegner R.‐D. , Wirtz A. , Zankl H. , Zankl M.
Published: July 2010

The dermatoglyphic patterns of fingertips, palms and soles of 75 male patients with X‐linked mental retardation and fra‐Xq27 and of 28 obligate female heterozygotes were analyzed and compared with the data from 200 S and 200 control individuals. The results show that there is a strong association between the fra‐X‐syndrome and dermatoglyphic peculiarities observed in male patients and also in female heterozygotes. The characteristic dermatoglyphic features of the fra‐X‐syndrome are: increased frequencies of radial loops, whorls and arches on the fingertips, a pronounced transversal course of palmar ridges, lower a‐b RC, absence of c‐triradii on the palms, abnormal palmar and plantar creases, dysplasia of the papillary ridges and low frequencies of true patterns on the soles. Some of these patterns were found in the female carriers of fra‐Xq27 also. The combination of palmar and plantar patterns, expressed by a “log. score‐Index”, provides a high degree of discrimination between the male patients with fra‐X‐syndrome and the control group. A preliminary log. score‐Index was developed also for the female heterozygotes.

A “phantom picture” of the dermatoglyphic stigmata is constructed. We suggest that dermatoglyphic examination of the members of families suspected for fra‐Xq27‐syndrome can be useful for predicting this state and for diagnosing male hemizygotes and carrier females.
Autosomal whole arm translocations in man
Authors: Kleczkowska Alice , Fryns Jean‐Pierre , Berghe HermanVanDen
Published: July 2010

A patient with a 46, XX, t(5p7p;5q7q) karyotype is described and the review of the literature on whole arm translocations in man is made.
Paternal non‐disjunction in a 46, XY/ 47, XXY individual with a fragile 17p12 in the mother
Authors: TOMMERUP N. , TøNNESEN T. , GUSTAVSON K. ‐H.
Published: July 2010

In a family where the mother carried a fragile site at 17p12, RFLP‐analysis with the X‐specific probe 11.28 showed that the 46, XY/47, XXY mosaicism detected in her Klinefelter son was due to a non‐disjunctional event in paternal meiosis I, followed by a secondary loss of an X‐chromosome by a mitotic non‐disjunction. Thus, an association between the primary meiotic non‐disjunction and the presence of the fragile site could be excluded.
Prenatal diagnosis and pathoanatomy of iniencephaly
Authors: Mórocz I. , Szeifert G. T. , Molnár P. , Tóth Z. , Cśecsei K. , Papp Z.
Published: July 2010

The authors discuss the diagnostic criteria of iniencephaly based on data from the literature and eleven additional, new cases. The most important differential diagnostic problems involve anencephaly with spinal retroflexion and the Klippel‐Feil syndrome. Ultrasound indicated cranio‐spinal alterations while amniotic fluid AFP estimation and exfoliative cytology substantiated abnormal closure of the neural tube, thus comprising helpful means for prenatal diagnosis of iniencephaly. The authors emphasize the need for median‐sagittal sectioning through the spinal column for accurate evaluation of vertebral abnormalities. This, together with close observation of the occiput and the foramen magnum, helps the precise diagnosis of iniencephaly and once regularly applied will most likely result in more frequent recognition of this developmental abnormality.
Segregation analysis of balanced pericentric inversions in pedigree data
Authors: Sherman S. L. , Iselius L. , Gallano P. , Buckton K. , Collyer S. , DeMey R. , Kristoffersson U. , Lindsten J. , Mikkelsen M. , Morton N. E. , Newton M. , Nordensson I. , Petersen M. B. , Wahlström J.
Published: July 2010

The results of the recent European collaborative prenatal study suggested a segregation distortion of balanced pericentric inversions from carrier fathers but not carrier mothers (Boue & Gallano 1984). In an attempt to confirm these unexpected results, we examined 216 pedigrees with balanced pericentric inversions collected from three centers and from the literature. We were unable to detect any significant deviation from the expected 1:1 segregation of balanced pericentric inversions to normal karyotypes among the offspring of either carrier parent. To clarify the discrepancy between the studies, we reanalysed the data from the prenatal study using all karyotyped individuals and, assuming conventional ascertainment rules, found a normal segregation pattern. We conclude (a) that balanced pericentric inversions segregate normally in both males and females and (b) that some retrospectively selected pedigrees were included as prospective in the prenatal study and this misclassification caused the apparent segregation distortion from carrier fathers.
A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection
Authors: Burn J. , Wickramasinghe H. T. , Harding B. , Baraitser M.
Published: July 2010

We report two children, the products of a consanguineous union, who died in infancy. Both children had severe microcephaly intracranial calcification, lissencephaly and polymicrogyria.
Deletion of chromosome 11 (p11p13) in a patient with Beckwith‐Wiedemann syndrome
Authors: Schmutz Sheila M.
Published: July 2010

Four cases of duplication of a segment of 1 lp have been reported in patients with Beckwith‐Wiedemann syndrome (Waziri et al. 1983, Turleau et al. 1984). We describe a patient with Beckwith‐Wiedemann syndrome who has a deletion of chromosome 11 (p11p13) and suggest involvement of this chromosomal region in both the duplicated and deleted states such as occurs in Prader‐Willi syndrome.
δ‐aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency
Authors: Doss Manfred , Benkmann Heide‐G. , Goedde H.‐Werner
Published: July 2010

The inheritance of a deficient ^‐aminolevulinic acid dehydrase (ALA‐D; synonym: porphobilinogen synthase; EC 4.2.1.24) was studied in blood samples of two families over three generations. The propositus in each family was a young male acute hepatic porphyria patient with an almost complete ALA‐D deficiency in the homozygous state (ALA‐D activity < 2% of controls). Heterozygotes are clinically non‐affected (mean ALA‐D 36% of controls). The mode of transmission could be traced by enzyme activity and electrophoretic polymorphism studies. Heterozygotes are detected by the demonstration of enzyme activity in the gel. The notation D was used for the gene expressing the defective enzyme. The “phenotype” D‐l was observed in six, the “phenotype” D‐2 in three of all heterozygotes studied. These results are compatible with a single normal allele in heterozygotes responsible for enzyme activity. Quantitative assays and the segregation pattern in both families suggest a 3‐allele‐system for the inheritance of ALA‐D deficiency.
St. Helena familial genu valgum
Authors: Beighton P. , Myers H. S. , Aldridge S. J. , Sedgewick J. , Eickhoff S.
Published: July 2010

A kindred on the mid‐Atlantic island of St. Helena has severe “knock knees” and variable lesser malalignment at the elbows and wrists. The disorder is the consequence of hypoplasia of the corresponding bony condyles, with subsequent progressive degenerative osteoarthrophy. Inheritance is autosomal dominant and the condition seems to be a private syndrome which has arisen on the island by recent mutation. In view of the geographical localisation of the disorder and the anatomical distribution of the abnormalitites, we propose the title “St. Helena Familial Genu Valgum”.
An asymmetric type of chondrodysplasia in an adult male
Authors: Fryns J. P. , Berghe H. VAN DEN
Published: July 2010

In this paper we report a 22‐year‐old male with an asymmetric skeletal dysplasia, affecting almost the whole right part of the body and closely resembling pseudoachondroplastic dysplasia.

This “segmental” type of chondrodysplasia is apparently another rare example of a somatic mutation of an autosomal dominant gene in man.
Oto‐Palato‐Digital syndrome in four generations of a larqe family
Authors: Pazzaglia Uco E. , Beluffi Giampiero
Published: July 2010

A new large family, affected by 0‐P‐D syndrome is reported. Nine members in four consecutive generations have been studied.

Computerized tomography study of spine and skull showed abnormalities to be confined to mesodermal derivates, while nervous structures were normal.

Transmission pattern may be X‐linked with intermediate expression in the female or autosoma1 dominant with sex limitation of expression.
Minimal pigment: a new type of oculocutaneous albinism
Authors: King Richard A. , Wirtschafter Jonathan D. , Olds David P. , Brumbaugh John
Published: July 2010

Minimal pigment, a new type of oculocutaneous albinism (OCA), is described. At birth, affected individuals had no skin or eye pigment, and white hair and blue irides, but minimal amounts of pigment developed in the iris during the first decade of life. They had no measurable hairbulb tyrosinase activity. A characteristic and unusual pattern of parental activity was found in each of three families studied, with one parent having normal and the other parent having abnormally low tyrosinase activity. The melanocyte ultrastructure was normal and variations in premelanosomal pigmentation correlated with tyrosinase activity. This clinical and biochemical pattern has not been seen in any of the previously described types of OCA. The biochemical defect in minimal pigment OCA is unknown.
Detection and localization of an extra HLA locus in a karyotypically normal male by chromosomal in situ hybridization
Authors: Morton Cynthia C. , Brown Judith A. , Kirsch Ilan R. , Evans Glen A. , Mohanakumar Thalachallour , Nance Walter E.
Published: July 2010

The codominant expression of three HLA haplotypes was found in a healthy 21‐year‐old Black male, whose prometaphase karyotype was normal by light microscopy. He was the sibling of an antenatally diagnosed female fetus with a partial duplication of 6p. The duplication arose from a complex presumably balanced maternal chromosome rearrangement: 46, XX, dir ins(14;6)(14pter→14p11::6p22→6p21.1::14p11→14qter;6pter→6p22::6p21.1→6qter). Chromosomal in situ hybridization using a tritium‐labeled genomic clone corresponding to a class I HLA gene revealed two sites of hybridization: at 6p21.3, the band to which this probe has been assigned in normal individuals (Morton et al. 1984a) and a second site at 6p11. We postulate that a recombinational event during meiotic pairing in the mother led to the reintroduction into the normal chromosome 6 homolog of a small segment of the original insertion in chromosme 14 which contained the HLA‐A and ‐B determinants.
A variant of the “DIDMOAD” syndrome: (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness)
Authors: Friedman E. , Blau A. , Farfel Z.
Published: July 2010

A 29‐year‐old female with diabetes insipidus, deafness, a visual disorder and an abnormal glucose tolerance test, who gave birth to a healthy baby is described. Her male sibling is probably also similarly affected. These patients may represent previously unreported variants of the “DIDMOAD” (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. This is the first reported case of childbirth in an affected patient.
A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations
Authors: Urbach D. , Hertz M. , Shine M. , Goodman R. M.
Published: July 2010

An Arab family is reported in which the proband and two affected sibs had bilateral rhizomelia of the humerus and other skeletal, craniofacial and cardiac abnormalities. Since all three affected sibs died during early childhood, this may be a lethal condition. We believe this constellation of findings which has not been previously described represents a new syndrome, most probably transmitted as an autosomal recessive disorder.
Mosaicism for ring and isopseudodicentric chromosome 13
Authors: Hutchinson‐Cole Holly , Aleck Kirk A. , Davis John R. , Veomett Iris C. , Hauck Lynn
Published: July 2010

A three‐month‐old female infant with multiple malformations was noted on routine cytogenetic evaluation to have dicentric/ring mosaicism of chromosome 13. Additional cytogenic investigations indicated that the dicentric could be further defined as an isopseudodicentric. Unlike the double chromosome break in the more common ring 13 cases, the mechanism for isopseudo‐dicentric/ring generation is attributed to chromosome and chromatid breaks with subsequent bridging, breaking and fusion. The phenotypic features are those of a combined duplication‐deficiency of chromosome 13.
Determination of cholinesterase and acetylcholinesterase in amniotic fluid
Authors: Elejalde B. Rafael , Peck Gregory , Elejalde Maria Mercedes de
Published: July 2010

The determination of acetylcholinesterase (AChE) has been shown to be as specific as alphafeto‐protein (AFP) for the prenatal detection of open neural tube defects although AFP remains the method of choice. This paper describes a semi‐automated technique for the analysis of acetylcholinesterase in amniotic fluid that: A) reduces the cost of the procedure; B) allows for a larger number of samples to be run at a time; and C) provides for more accurate and reproducible procedures and results. Six fetuses with neural tube defects (2 with gastroschisis and 3 where one twin was dead) were detected and found to have elevated AChE, TChE and 2 bands by electrophoresis. Quality control procedures using both pure enzyme and amniotic fluid with low and high levels of the enzyme are described. The analysis of 340 amniotic fluids of normal pregnancies indicates that the normal value for AChE is 5.17 ± 2.63 mU/ml (97% confidence interval for the mean 4.84‐5.49 mU/ml. A group of 27 abnormal pregnancies provides evidence that fetal vomiting and regurgitation, fetal demise, multiple cysts syndrome, idiopathic IUGR, arthrogryposis multiplex, hydrocephaly (stenosis of aqueductus), trisomy 21, trisomy 18, hydronephrosis, pyloric stenosis, heart malformation, ectopia cordis and multiple gestation produce elevated levels of pseudocholinesterase (PChE) in amniotic fluid. The use of pseudocholinesterase levels in amniotic fluid for prenatal diagnosis is proposed and discussed in view of its elevated levels in abnormal pregnancies where AChE is normal. The normal values for PChE are 23.86 mU/ml (mean) and 5.83 for standard deviation. Electrophoretic analysis was performed on all samples with values higher than one standard deviation above the mean. The AChE band was found only in fetuses with open neural tube defects and pyloric stenosis.
Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis
Authors: Stoll C. , Roth M‐P. , Dott B. , Bigel P.
Published: July 2010

During three years, 39,924 infants born consecutively in the area covered by our registry of congenital malformations were surveyed; 775 had major congenital malformations.

Recurrence risks for the major malformation was estimated and classified as high (> 10%, 5.3% of the cases), low (1 to 10%, 85.3% of the cases) or occasional (<1%, 9.4% of the malformed).

Feasibility of prenatal diagnosis was considered. On the basis of the recurrence risk of 1 % or higher and the feasibility of prenatal diagnosis, such a procedure should be considered in future pregnancies in 64.1% of the mothers.

Genetic counseling has to be given to couples at risk of having a malformed child. For this purpose, as is shown in our study, the best way is the possibility of using a registry of congenital malformations.
Homozygosity for a Y/22 chromosome translocation: t(Y;22) (q12;p12/13)
Authors: Leschot N. J. , Velden J. V.D. , Marinkovic‐Ilsen A. , Darling S. M. , Nijenhuis L. E.
Published: July 2010

A newborn girl, homozygous for a balanced Y/22 chromosome translocation is described. This unique karyotype was detected during prenatal chromosome studies in the first pregnancy of a 26‐year‐old woman. Amniocentesis was performed because of clinical evaluation of severe fetal growth retardation in the 28th week of gestation. The cytogenetic results were confirmed using a lymphocyte culture after birth in the 30th week. Subsequent chromosome studies of the parents were hampered by the fact that the pregnancy was thought to be the result of artificial insemination with donorsperm. Nevertheless both, consanguineous, parents were shown to be carriers of the same, singular, chromosome translocation and the spermdonor could be excluded from paternity by bloodgroup‐ and HLA studies. Distamycin‐A‐DAPI chromosome staining and DNA studies of the mother were used to confirm the involvement of the Y‐chromosome in this translocation. The probanda is developing quite normally at the age of 21 months.
Population cytogenetics of autosomal fragile sites
Authors: Petit P. , Fryns J. P. , Berghe H. van den , Hecht F.
Published: July 2010

The present investigation deals with a population chromosomal survey for autosomal fragile sites under conditions of folate deprivation in 405 mental retardates. A total of 13 ascertainments of folate sensitive autosomal fragile sites is observed, of which 10q23 fragility appears to be the most frequent. Further cytogenetic studies of normal and retarded individuals are required to help elucidate the possible phenotypic effect of these autosomal sites and mental retardation.
Cytogenetic analysis in 100 spontaneous abortions in North‐East Scotland
Authors: Procter Susan E. , Watt Jessie L. , Gray Elizabeth S.
Published: July 2010

The results of an extremely detailed cytogenetic analysis on 100 spontaneous abortions occurring in the Aberdeen area over a 3 year period is presented. A comparison with other published series reveals that there is a higher culture success rate (93%) accompanied by a lower incidence of trisomy and a higher incidence of triploidy, although the percentage of chromosomally abnormal foetuses in first trimester abortions is comparable with other studies. However, these apparent discrepancies can largely be explained on the basis of gestational age and sampling variation.
Sanfilippo disease in Greece
Authors: Beratis Nicholas G. , Sklower Susan L. , Wilbur Lorraine , Matalon Reuben
Published: July 2010

In a series of cases collected in most parts of the world, Sanfilippo disease type A is more frequent than type B. Skin biopsies were obtained from Greek patients suspected for Sanfilippo disease and cultured fibroblasts were assayed for both N‐acetyl‐a‐glucosaminidase and sulfami‐dase activity. Eleven patients with Sanfilippo disease were identified. Ten of them were type B and one type A. The 10 patients with type B came from East‐Central Greece and the neighboring areas of Thessaly and Macedonia. Both parents of the type A patient were from the Greek ethnic community of Turkey. It remains unknown whether or not the higher frequency of type B than type A appears only in Greece or if it occurs in other Mediterranean countries as well.
Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality
Authors: Allanson Judith , Austin William , Hecht Frederick
Published: July 2010

A syndrome of cutis laxa, ligamentous laxity and delayed motor development has been reported in 13 children. All are girls. Four are from Saudi Arabia. Another Saudi Arabian girl, the product of a consanguineous union, is described with intrauterine growth retardation, delayed closure of the anterior fontanel, slow motor development, cutis laxa and ligamentous laxity. The syndrome appears to be an autosomal recessive disorder of connective tissue, with male lethality.
Cerebral gigantism with hydronephrosis: a case report
Authors: Adam Khalifa Abdel Rahim , Frayh Abdul Rahman Salih Al , Sharma Arvind , Taha Salah Ali
Published: July 2010

A case of cerebral gigantism with hydronephrosis in a 20‐month‐old boy is described. Hydronephrosis is believed to be an additional association of the syndrome not hitherto reported.
Pericentric inversion 16 in man ‐ a second case
Authors: Miller Konstantin
Published: July 2010

A second case of a pericentric inversion of the heterochromatic region in chromosome 16 is described. This extremely rare polymorphism was not associated with any anomalies.
Cardiovascular manifestations in Fabry's disease
Authors: Sakuraba Hitoshi , Yanagawa Yukishige , Igarashi Takashi , Suzuki Yoshiyuki , Suzuki Tadashi , Watanabe Koji , Ieki Keiko , Shimoda Kosuke , Yamanaka Tatsuhiro
Published: July 2010

Cardiovascular manifestations of Fabry's disease were studied clinically in 10 hemizygous males and 13 heterozygous females. Mitral valve prolapse was found in 5 of 9 hemizygotes and in 5 of 13 heterozygotes examined by echocardiography. Ordinary medical examinations revealed cardiomyopathy in some asymptomatic females, and the diagnosis of the Fabry heterozygote was established by demonstration of specific inclusion bodies in the biopsied myocardium and low a‐galactosidase activity in leukocytes. Renovascular hypertension of juvenile onset and thromboembolism were also found in 7 patients. It was concluded that Fabry's disease should always be considered in cases of mitral valve prolapse, cardiomyopathy, renovascular hypertension and thrombosis of unknown etiology, and that the Fabry patients should be followed carefully for the early detection of cardiovascular involvements in this disease.
Measurement of body fat in Turner syndrome
Authors: Delgado J. A. , Trahms C. M. , Sybert V. P.
Published: July 2010

Fourteen individuals with the Turner syndrome (gonadal dysgenesis with X chromosome abnormalities) were evaluated for obesity using hydrostatic weighing and skinfold measurements. While skinfold estimates of body fat correlated well with clinical impression, hydrostatic weighing appeared to falsely overestimate percent body fat. We suggest that reduced skeletal mass and/or occult lymphedema in Turner syndrome may invalidate the formula used to calculate percent body fat derived from hydrostatic weights. In this population and possibly in other disorders where skeletal mass is reduced from the normal, the use of hydrostatic weighing may be inappropriate.
A new chromosome instability disorder
Authors: Maraschio Paola , Peretti Diletta , Lambiase Simonetta , Curto Franco Lo , Caufin Daniele , Gargantini Luigi , Minoli Lorenzo , Zuffardi Orsetta
Published: July 2010

Chromosome analysis in a 31‐year‐old woman referred for primary amenorrhea, revealed a very high incidence of chromosome aberrations. She had microcephaly and immunodeficiency. Her healthy parents were consanguineous (1/32) and a younger sister, also with primary amenorrhea, died when 20 years old with a malignant lymphoma.

Chromosome studies were performed on lymphocytes and fibroblasts and in both tissues a high proportion of metaphases with multiple chromosome aberrations was found. Clonal and sporadic rearrangements, consisting of balanced and unbalanced translocations and dicentric chromosomes were more numerous than chromatid and chromosome breaks. In the lymphocytes the same unbalanced translocation t(8q;21q) was present in about 59% of the metaphases. Rearrangements involving chromosomes 7 and 14, similar to those described in patients with ataxia‐telangiectesia were found, but with a lower frequency. Sister Chromatid Exchanges were not increased. Chromosome and chromatid abnormalities were enhanced after exposure of cells to mitomycin C but not after exposure to the radiomimetic drug bleomycin.

Clinical and cytogenetic characteristics of the patient are compared with those of syndromes (Ataxia‐Telangiectesia and Werner's syndrome) or isolated cases (Weemaes et al. 1981, Sperling 1983, Spinner et al. 1985) whose features are similar to those of our patient. This case might represent a new chromosome instability syndrome due to a recessive mutation.
Diagnostic applications of H‐Y serology: H‐Y negative phenotype in cells from 45, X/ 46, XY fetus with testes
Authors: Lieber Ernest , Wachtel Stephen S. , Aftalion Belinde , Zaslav Ann‐Leslie
Published: July 2010

Sexual dysmorphism should be considered likely in cases in which H‐Y‐ phenotype and XY complement are found together. In the case described here, a pregnancy was terminated at nineteen weeks of gestation after 45, X and 46, XY cell lines were detected among cultured amniocytes. The fetus was a male with hypospadias and intraabdominal testes containing irregular tubules and hyperplastic interstitium. Cultured skin fibroblasts, containing 45, X and 46, XY lines in ratio of 18:2, were typed H‐Y antigen negative. This underscores the danger of predicting gonadal type on the basis of somatic H‐Y phenotype.
Full expression of Hunter's disease in a female with an X‐chromosome deletion leading to non‐random inactivation
Authors: Broadhead D. M. , Kirk Jean M. , Burt A. J. , Gupta Vidya , Ellis Patricia M. , Besley G. T. N.
Published: July 2010

A 2.5‐year‐old girl who presented with abdominal distension, hepatomegaly, coarse fades, hirsutism and contraction deformities was investigated for mucopolysaccharidoses. Urinary excretion showed increased total glycosaminoglycans (105 mg/mmol creatinine; normal for age 9–20 mg/mmol) with marked increases of dermatan and heparan sulphates. A number of lysosomal enzyme activities were measured on leucocytes, serum and cultured fibroblasts. Normal or high activities were found for a‐iduronidase, N‐acetylgalactosamine‐6‐sulphatase, β‐galactosidase, arylsulphatase B and /J‐glucuronidase. However a marked deficiency ofiduronate sulphate sulphatase activity was observed, consistent with a diagnosis of Hunter's disease. Activities were reduced to less than 2% of mean control values in the patient's leucocytes, serum and cultured fibroblasts. Normal activities were measured in samples from the father and younger sister but a partial deficiency (43% of control serum) was found in the mother. Chromosome studies on the patient revealed a partial deletion of the long arm of one X‐chromosome, most probably of band Xq25, which was not inherited from either parent. Studies using BrdU indicated that the deleted X chromosome was consistently late replicating, and as a result the Hunter gene was fully expressed on the other X chromosome.
The acrocallosal syndrome in sisters
Authors: Schinzel Albert , Kaufmann Ulrich
Published: July 2010

Two sisters born to non‐consanguineous healthy parents are described who present the following abnormalities: macrocephalus, prominent forehead, hypertelorism, absence of the corpus callosum, inguinal hernias, duplication of hallucal phalanges and severe mental retardation. The older sister in addition had cleft palate, while only the younger had a supratentorial cyst between cerebrum and cerebellum and epileptic fits. After 6 sporadic cases, this is the first instance of siblings with the acrocallosal syndrome. This observation and definite and possible parental consanguinity in two further patients suggest that this syndrome might be recessively inherited.
Multiple sulphatase deficiency presenting at birth
Authors: Burch M. , Fensom A. H. , Jackson Marie , Pitts‐Tucker T. , Congdon P. J.
Published: July 2010

A new case of multiple sulphatase deficiency with onset at birth is described. The patient had many dysmorphic features and hydrocephalus, similar to one other case with early onset described in the literature. The new patient differed from the other case in having chondrocalci‐ficans congenita, heart abnormalities and an abnormal fold of tissue present between the laryngeal inlet and the oesophagus. Excessive mucopolysacchariduria was present and there was profound deficiency of all sulphatases examined in plasma, leucocytes and cultured skin fibroblasts.
Exencephaly in human fetuses
Authors: Papp Z. , Csécsei K. , Tóth Z. , Polgár K. , Szeifert G. T.
Published: July 2010

In some anencephalic fetuses exposed neural tissue mass of varied size can be demonstrated. This is known as exencephaly. The authors diagnosed by ultrasound 10 typical exencephalic cases prenatally between 14 and 21 weeks of gestation. Nine singular pregnancies were terminated and in the twin pregnancy a selective feticide of the exencephalic co‐twin was carried out. The pregnancy continued to term and a healthy newborn infant and a fetus papyraceus were born. The mummified co‐twin was anencephalic and showed only the remnants of the exposed brain.

Authors suggest that, as in experiments with animals, the exencephaly in humans, by the degeneration of the exposed neural tissue converts to anencephaly and in this process the macrophages in fetal circulation and in the amniotic fluid may play a significant role. The large number of these actively phagocytic macrophages can be demonstrated in the amniotic fluid samples from exencephalic fetuses.
Case report: partial trisomy 20q (20q13.13→qter)
Authors: Sax Christina M. , Bodurtha Joann N. , Brown Judith A.
Published: July 2010

Presented here is an infant displaying trisomy of the region 20ql3.13→qter. This case shares phenotypic features with previously reported trisomy 20q individuals.
Fragile 19p13 in a family with mental illness
Authors: Chodirker B. N. , Chudley A. E. , Ray M. , Wickstrom D. E. , Riordan D. L.
Published: July 2010

We describe a family where four brothers show the rare heritable folate sensitive autosomal fragile site (FSAFS) at 19pl3 when cells were grown in TCI99. Two of the brothers are schizophrenic while one brother is mentally retarded with autistic‐like features. The clinical significance of this fragile site however is still unknown.
In vitro hyperdiploidy in dermal fibroblasts: evidence for genetic predisposition in aerodigestive tract cancer
Authors: Danes B. Shannon , Boyle Paula D. , Traganos Frank. , Ringborg Ulrik , Melamed Myron R.
Published: July 2010

A numerical alteration in chromosome complement in human dermal fibroblast cultures, hyperdiploidy with a normal occurrence of tetraploidy (IVH) has been reported (Danes 1984) to be associated with some heritable single tumors including squamous carcinoma of the nasopharynx (Danes 1986). The incidence of IVH was compared in cultures derived from 65 patients with squamous carcinoma in different regions of the aerodigestive tract (ADT) and 32 clinically normal subjects without a family cancer history by 2 different assays, metaphase assay (MA) and flow cytometry (FCM).

By MA, none of the 32 normals showed IVH. Of the 65 ADT patients studied, 35 had IVH and 30 did not. By FCM, there were significant differences in the FCM DNA index (p values<0.001) of “IVH” (all normals and 30 ADT patients) and IVH+ ADT patients. The per cent of cells with a DI of 2 and > I could be used to distinguish all IVH˜ from the IVH + subjects and were thus considered to be the parameters of choice in assaying IVH by FCM. None of the subjects studied showed increased in vitro tetraploidy (IVT) which has been associated with some heritable colon cancer syndromes.

Irrespective of family cancer history, approximately half (35/65) of the ADT patients had IVH which has been shown to be associated with the in vivo expression of certain heritable tumors. The average age of squamous carcinoma diagnosis was earlier (mean 50 yrs) for the IVH* group than for the IVH˜ADT group (mean 72 yrs).
Prenatal diagnosis in Becker muscular dystrophy
Authors: Wood Stephen , Shukin Robert J. , Yong Siu Li , Wilson Doug , Kalousek Dagmar , Chudley Albert
Published: July 2010

Prenatal diagnosis in a pregnancy at risk for Becker muscular dystrophy is reported. The diagnosis was made prior to 12 weeks of gestation by typing a CVS sample for DNA markers.
Pseudodeficiency of arylsulfatase A: a counseling dilemma
Authors: Baldinger S. , Pierpont M. E. , Wenger D. A.
Published: July 2010

Arylsulfatase A (ASA) deficiency is the cause of early and late onset metachromatic leukodystrophy (MLD). Low ASA levels are detected in some healthy individuals who are pseudodefi‐cient (PD). PD individuals can be distinguished, because PD fibroblasts hydrolyze14C‐sulfatide at similar rates to normal fibroblasts. This has also been demonstrated in amniocytes and chorionic villi (CV). The genetic basis for PD is not clearly understood and is most likely heterogeneous with respect to allelic mutations of the ASA gene. It is hypothesized that the PD phenotype can either be due to PD/PD or PD/MLD genotypes, only the latter representing a potential risk to offspring. We report an unusual family where two siblings, both carriers of the classic late infantile MLD allele, are married to unrelated PD individuals. One couple has two PD offspring; their “at risk” status, due to the lack of an affected offspring is in question. The other couple terminated a fetus determined to be affected with a “MLD variant”, most likely a compound heterozygote. Cautions prenatal counseling of PD families is essential. The population frequency of the PD phenotype is unknown.
Inv(4)(p16q21). A five‐generation pedigree with 24 carriers and no recombin ants
Authors: Rivas Fernando , Garcia‐Esquivel Lidia , Rivera Horacio , Jiménez Martha Estela , González Rosa María , Cantú José María
Published: July 2010

A familial inv(4)(p16q21) ascertained through a woman who had a thanatophoric dwarf daughter and two abortions is presented. She and 23 other relatives were carriers, but no recombinants were found. The proportion of abortions and neonatal deaths in carriers' offspring was similar to that in non‐carriers. A random segregation of the inverted chromosome was observed. The analysis of the present and previous familial chromosome 4 pericentric inversions indicates that: a) the breakpoint in q, with a limit between q21 and q25 determines the occurrence of inherited unbalances, and b) most recombinant chromosomes have duplication of the larger distal segment.
Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation ‐ a new genetic syndrome
Authors: Jagell S. F. , Holmgren G. , Hofer P.Å.
Published: July 2010

A syndrome with severe generalized congenital ichthyosis, alopecia, eclabion, ectropion and mental retardation without neurological symptoms or macular changes in the eyes was seen in two sibs and in two aunts and uncles in an inbred North‐Swedish family. The clinical picture of the patients in the present family strongly deviated from that seen in the Sjögren‐Larsson syndrome found in the same area. This could be a new syndrome with autosomal recessive inheritance.
Unusual in vivo rearrangements of the Y‐chromosome in two males
Authors: Fryns J. P. , Kleczkowska A. , Lemmens P. , Berghe H. Van den
Published: July 2010

In the present paper two male patients with die Y‐chromosomes are reported with special attention to the identical and peculiar Y‐chromosome rearrangements. Different cell types with variable morphology of the rearranged Y‐chromosomes were found in both patients.
A new patella syndrome
Authors: Sandhaus Y. S. , Ben‐Ami T. , Chechick A. , Goodman R. M.
Published: July 2010

A 14‐year‐old boy is reported with bilateral hypoplastic patellae and multiple congenital skeletal anomalies. Since this constellation of bony malformations has not been described previously, we believe this represents a new syndrome most probably of genetic etiology.
Technical and biological aspects of pseudomosaicism and mosaicism
Authors: Moller Päl , Ormerod Eli
Published: July 2010

In 471 amniotic fluid cell cultures, single abnormal cells were found to be randomly distributed. The expected number of pseudomosaicisms for aneuploidy due to randomly distributed cells was 3.9, and the observed number was 4. Expected number of mosaicism for aneuploidy was 0.6, and none was observed.

The findings indicated that pseudomosaicisms as well as mosaicisms may be diagnosed from randomly distributed single abnormal cells. The probability of erroneously confirming mosaicism increased with the number of cells analysed in the second culture.
Tetraploidy with hydrops fetalis, cystic nuchal hygroma and 90, XX karyotype
Authors: FRYNS J. P. , Vandenberghe K. , Moerman F. , Kleczkowska A. , Berghe H. Van den
Published: July 2010

In the present report we describe a mid‐trimester Turner fetus with cystic nuchal hygroma, hydrops fetalis and 90, XX karyotype. This observation suggests that the development of a typical Turner syndrome in humans is apparently caused by a specific autosome/X chromosome ratio (44:1 in 45, X patients or 88:2 in the present fetus) rather than by an X‐chromosome monosomy.
Autosomal dominant endosteal hyperostosis
Authors: Perez‐Vicente J. A. , Castro E. Rodríguez De , Lafuente J. , Mateo M. MARTÍN D. , Giménez‐Roldán S.
Published: July 2010

The first reported Spanish family with autosomal dominant endosteal hyperostosis is presented and two members in two different generations studied. Neurological involvement with sensorineural hearing loss, chronic intracranial hypertension, and mild corticospinal tract abnormalities were found in one case with radiological evidence of progressive bone disease at follow‐up. In addition to mild hydrocephalus, CT‐scan of the head documented a reduction in size of the posterior fossa and encroachment of the foramen magnum. A pattern of selective increase in the bone fraction of serum alkaline phosphatase was also recorded. This family supports the view that severe forms of endosteal hyperostosis are not confined to the autosomal recessive variant, as individuals with the autosomal dominant form may also show relentless progression to neurological involvement during adulthood.
An abnormal pattern of amniotic fluid microvillar enzymes signalling fetal cystic fibrosis
Authors: Brock David J. H. , Clarke Hazel A. K.
Published: July 2010

We have observed seven pregnancies at risk for fetal cystic fibrosis where second‐trimester amniotic fluid microvillar enzyme activities presented an unusual pattern. Low y‐glutamyl‐transpeptidase and borderline a‐glucosidase values were associated with normal aminopepti‐dase M and intestinal alkaline phosphatase values. All seven pregnancies went to term; five of the seven infants were affected with cystic fibrosis.
Assignment of the locus order DXS28‐ DXS67‐DMD as a spin‐off from diagnostic DNA marker analysis in a family with Duchenne muscular dystrophy
Authors: Nørby Søren , Schwartz Marianne
Published: July 2010

During diagnostic segregation analysis for seven DNA markers, linked to and flanking the locus for Duchenne muscular dystrophy (DMD), a family was identified in which a boy with a recombinant X chromosome had inherited his maternal grandmother's alleles at the loci DXS43 (D2/Pvu II) and DXS28 (C7/Eco RV), and his maternal grandfather's alleles at DXS67 (B24/Msp I) and DXS84 (754/Pst 1).

Combined with earlier data this finding strongly suggests the locus order DXS28‐DXS67‐DMD. Another recombination event, identified in the same family, supports the previously established order DMD‐DXS84‐OTC.

The diagnostic importance of flanking markers, and the likelihood of false diagnostic conclusions due to possible double crossovers, with and without demonstrable neighbouring single crossover events, are discussed.
Diagnosis of arylsulfatase A deficiency in intact cultured cells using a fluorescent derivative of cerebroside sulfate
Authors: Bach Gideon , Dagan Arie , Herz Barbara , Gatt Shimon
Published: July 2010

A fluorescent derivative of cerebroside sulfate (12‐(l‐pyrene)dodecanoyl‐sphingosylgalactosyl‐0–3‐sulfate (P12‐sulfatide) has been synthesized as a potential substrate for the determination of cerebroside sulfatidase (or arylsulfatase A) activity. It was administered into cultured human skin fibroblasts and thereby utilized for the diagnosis of arylsulfatase A deficiency. Cultured skin fibroblasts from normal individuals and healthy persons suffering from a pseudoarylsulfa‐tase A deficiency (PD) degraded the P12‐sulfatide, while in cells derived from a metachromatic leukodystrophy (MLD) patient it remained essentially intact. This contrasts with in vitro determinations of enzymatic activity, where the MLD or PD‐derived arylsulfatase A exhibit similar deficiency, in spite of a profoundly different clinical course. Administration of the fluorescent sulfatide into the intact cells permitted a sensitive and rapid diagnosis of MLD and its distinction from the PD‐phenomenon. This might be of particular importance for cases in which a rapid diagnosis is required and for prenatal diagnosis of fetuses from families afflicted with both MLD and pseudo‐deficiency mutant genes.
Adult Turner syndrome associated with chylous ascites and vascular anomalies
Authors: Treisman Jonathan , Collins Francis S.
Published: July 2010

An adult female with Turner syndrome presented with severe lymphedema and chylous ascites. In addition, the patient was found to have a right‐sided aortic arch and a left‐sided inferior vena cava. Although lymphedema is common in infants with Turner syndrome, it usually resolves in childhood. Chylous ascites in association with Turner syndrome is previously unreported. In this patient, a peritoneo‐venous shunt appeared to be beneficial.