bluuebunny/crossref_metadata_2025 huggingface dataset:
Genetic study of hyperlipoproteinaemia types IV and V
Authors: François J. , Lentini F. , Hose P. , Rottiers R.
Published: July 2010

In a family, of which 32 members belonging to three generations could be examined, 21 subjects were normal, while 11 were affected by hyperlipoproteinaemia types IV and V or related biological disorders. Neither an autosomal dominant inheritance nor an autosomal recessive inheritance nor a multiple‐type hyperlipoproteinaemia can unreservedly be accepted.
Ascertainment in the sequential sampling of pedigrees
Authors: Cannings C. , Thompson E. A.
Published: July 2010

One aim in the analysis of pedigree data may be to infer the mode of inheritance of a characteristic. If only “interesting” pedigrees are analysed, the ascertainment bias may lead to some modes of inheritance being unintentionally preferred. Also, it is clearly most efficient in attempting to make such inferences, if a decision on whether to continue sampling a pedigree is made conditional on the types of individuals who have been observed; an a priori decision to examine 500 members of a pedigree may lead to much wasted effort, since the pedigree may prove to be largely uninformative. The present paper shows that provided all observed families are included in the analysis, even those which appeared “uninteresting” or “sporadic” and were not sampled further, and provided a decision to continue sampling is made conditional on types observed up to that point, the correct likelihood for the mode of inheritance may be easily computed. This opens the way for a more detailed study of the wider problem of optimal sampling rules on pedigrees.
Trisomy 9 syndrome
Authors: Qazi Qutub H. , Masakawa Akiko , Madahar Cecily , Ehrlich Robert
Published: July 2010

An infant is described with multiple congenital anomalies associated with mosaic trisomy 9. Review of the three previously reported cases of trisomy 9 shows that these patients have several common features which make trisomy 9 a clinically distinct syndrome. The frequently encountered findings are: upward‐slanted eyes, small palpebral fissures, enophthalmos or microphthalmos, broad base and prominent tip of the nose, microcephaly, micrognathia, low‐set malformed ears, high‐arched palate, congenital heart disease, skeletal and genito‐urinary anomalies, abnormal palmar creases, failure to thrive, hypotonia and retardation.
Trisomy 8 syndrome
Authors: Theilgaard Alice , Lundsteen Cales , Parving Hans‐Henrik , Philip John
Published: July 2010

A 27‐year‐old, non‐retarded male with trisomy 8 mosaicism (46, XY/47, XY,+8) had a short head, a short broad‐bridged nose, a protruding upper lip, pterygium colli, moderate kypho‐scoliosis, camptodactyly of all fingers and deep furrowing on the soles. Radio‐graphic examination of columna showed spina bifida of L1 and fusion of L5 and S1. These findings are characteristic for the trisomy 8 syndrome.

A psychological study showed a personality characterized by immaturity and lack of spontaneity and self‐confidence. An intelligence test (WAIS) placed him within the normal range, but presented an uneven development of the cognitive functions with special difficulties in synthetic abilities and visual scanning. His auditive span was rather low, and his memory functions were somewhat below average.
7q deletion syndrome (7q32→7qter)
Authors: Harris E. L. , Wappner R. S. , Palmer C. G. , Hall B. , Dinno N. , Seashore M. R. , Breg W. R.
Published: July 2010

Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46, XX or XY, del(7)(q32); 46, XX or XY, del(7)(pter→q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five cases.
Phenotypic correlations in patients with ring chromosome 22
Authors: Hunter A. G. W. , Ray M. , Wang H. S. , Thompson D. R.
Published: July 2010

This paper reports two patients with a ring 22 chromosome which has been confirmed by Q‐banding. The literature contains 19 patients with a ring G‐group chromosome which has been shown by chromosome banding to be a ring 22. The most commonly reported features in affected patients have included: retardation with disproportionate verbal delay, reduced head circumference, hypotonia, unsteady gait, large ears with abnormal configuration, and epicanthic folds. The importance of these, as well as other, less often noted findings, is discussed in relation to a possible r(22) syndrome.
High incidence of spinal muscular atrophy type I (Werdnig ‐ Hoffmann disease) in the Karaite community in Israel
Authors: Fried K. , Mundel G.
Published: July 2010

Spinal muscular atrophy (S.M.A.) type I (Infantile Werdnig ‐ Hoffmann Disease) was found in 4:1,600 (1:400) infants of the Egyptian Karaite community. This group constitutes a representative sample of the Egyptian Karaite community in Israel, which numbers at present somewhat more than 7,000. The community existed as a religious and reproductive isolate for over 10 centuries. The very high gene frequency, 0.05 for the autosomal recessive gene of S.M.A. type I, is probably the result of genetic drift.
Congenital malformation of the feet with low body height
Authors: Gregersen Hans N. , Petersen Gert Bruun
Published: July 2010

Among 75 members of a Danish family, 12 were found with a syndrome not previously described. Clinically, the syndrome consists of low body height and rigid flat feet, with weight‐bearing pain in the feet. Radiologically, the deformation of the feet is a medial synostosis between the talus and the calcaneus combined with ankle joint dysplasia. The cause of the syndrome is most probably an autosomal dominant gene with complete penetrance. No linkage was found of the gene to 18 marker genes.
Short stature, craniofacial dysmorphism and dento‐skeletal abnormalities in a large kindred
Authors: Parloir C. , Fryns J. P. , Deroover J. , Lebas E. , Goffaux P. , Berghe H. van den
Published: July 2010

A possibly new mental retardation syndrome is described in a large family. The major features of the syndrome are: short stature, craniofacial dysmorphism and dento‐skeletal abnormalities. The mode of inheritance of this syndrome appears to be autosomal dominant with a variable degree of expressivity.

The possible similarity to another autosomally dominant inherited mental retardation syndrome, “the K.B.G. syndrome” as described by Hermann et al. (1975), is discussed.
Cytogenetic study of 10 cases of infectious mononucleosis
Authors: Watt Jessie L. , Page B. M. , Davidson R. J. L.
Published: July 2010

Cytogenetic analysis of 10 cases of infectious mononucleosis has revealed increased damage in the form of chromosome breakage and aberrations typical of viral infection, but in addition a few cells were consistently found to harbour a deleted number 22, similar to the Philadelphia chromosome. The presence of a plasma inhibitor of lymphocyte response to the mitogen phytohaemagglutinin is suggested. This inhibitor appears to have a reversible action on the patient's own lymphocytes but no inhibitory effect on control lymphocytes.
Further delineation of the supernumerary chromosome in the Cat‐Eye Syndrome
Authors: Toomey K. E. , Mohandas T. , Leisti J. , Szalay G. , Kaback M. M.
Published: July 2010

A clinical diagnosis of the Cat‐Eye Syndrome (CES) was made in a female child with anal stenosis, congenital heart disease, bilateral preauricular skin tags and coloboma of the right fundus. The karyotype was 46XX/47XX, +mar. Q‐banding revealed the marker chromosome to be metacentric and comparable in size to that of a G‐group chromosome. One arm had brightly fluorescent satellites while the other exhibited a fluorescent polymorphism similar to the short arm of a D‐ or G‐group chromosome. Chromosome analysis from blood cultures obtained from parents and three sibs did not demonstrate the presence of the marker chromosome. Comparison of the fluorescent polymorphisms revealed that the satellites on the marker were comparable in size and brightness to those of the maternal chromosome 22. C‐banding demonstrated the marker to be dicentric. While there has been much speculation on the origin of the Cat‐Eye Chromosome (CEC) based on clinical features in common with the trisomy 22 syndrome, autoradiographic studies and the general appearance of the marker, this case provides definitive evidence for the involvement of chromosome 22 in the origin of the marker chromosome. This chromosome is interpreted as the product of a Robertsonian translocation between the short arm and satellites of chromosome 22 and the short arm of another D‐ or G‐group chromosome, most likely 13. Thus, the karyotype of the patient is 46XX/47XX, t(?13;22) (?13pter→13q11::22q11→22pter). Reinvestigation of patients with CES utilizing heritable polymorphisms may better elucidate the specific nature of the marker, and further delineate a possible basis for the heterogeneity of the disorder.
Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings
Authors: Cao A. , Cianchetti C. , Signorini E. , Loi M. , Sanna G. , Virgiliis S. De
Published: July 2010

A sibship consisting of three siblings, one male and two females with unrelated parents, showed a clinical syndrome including: infantile spasms with hypsarrhythmia, microcephaly, severe mental retardation and spastic quadriplegia. The pneumoencephalogram performed in two sibs showed agenesis of the corpus callosum and aqueductal stenosis with tri‐ventricular dilatation. The disorder did not show a progressive course with deterioration of mental and neurologic functions. No biochemical or cytogenetic defect could be identified. Complement fixation for cytomegalovirus was negative. This syndrome complex is probably inherited as an autosomal recessive trait. The clinical and the genetic aspects of the syndrome are discussed.
α‐L‐Fucosidase of human skin fibroblasts and amniotic fluid cells in tissue culture
Authors: Butterworth J. , Guy G. J.
Published: July 2010

Cultured amniotic fluid cells had a higher level of α‐L‐fucosidase than skin fibroblasts. The early passages of amniotic fluid cells had a higher activity than later passages, whilst skin fibroblast activity was unrelated to passage. For both cell types α‐L‐fucosidase activity fell on subculture, rising again at confluency.
Translocation Y/5 resulting in Cri du Chat syndrome
Authors: Vignetti P. , Chessa Luciana , Bruni Lida , Ferrante E. , Dallapiccola B.
Published: July 2010

A case of 45, X, del(5)(p14/45, X, t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.
Partial deletion of long arm of chromosome 11: del (11) (q23)
Authors: Kaffe Sara , Hsu Lillian Y. F. , Sachdev Ranjit K. , Philips Joseph , Hirschhorn Kurt
Published: July 2010

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46, XX, del(11)(q23). The main clinical manifestations included: ocular colobomata, absent philtrum, severe congenital heart disease, contractures of the large joints and skin pigmentation.

Both parents showed a normal chromosome constitution. In comparison to the previously reported cases of 11q —, the patient presented here had more severe congenital anomalies. The correlation of the size of the deletion, and the location of the break, with the physical findings is discussed.
Cystinuria and mental deficiency
Authors: Gold R. J. M. , Dobrinski M. J. , Gold D. P.
Published: July 2010

Several studies have shown that the incidence of cystinuria in mentally retarded populations is higher than it is in the general population. The present study found that a group of cystinurics did not differ significantly in their intelligence from their normal siblings or intelligence test norms. Since cystinuria is a heterogeneous disease, the findings of the present study could be reconciled with previous findings by supposing that only certain genotypes for cystinuria lead to mental retardation.
Cystic fibrosis: Studies with the oyster ciliary assay
Authors: Bowman Barbara H. , Lankford B. J. , McNeely M. Carol , Carson Steven D. , Barnett Don R. , Berg Kåre
Published: July 2010

Bioassays using ciliary systems have detected a factor or factors in cystic fibrosis (CF) sera and tissue culture medium derived from CF cells. The typical shortcomings of an assay measuring biological activity have been studied, and the means to overcome the weaknesses of the oyster gill cilia assay have been established. The presence of the cystic fibrosis mucociliary inhibitor (CFMI) in experimental fractions may be determined by accepting data from only those assays in which authentic CF and normal (non‐CF) fractions give defined reactions, by measuring the reaction of each sample at least three times, and by examining each experimental sample at a protein concentration greater than the minimum established in this study. The relative concentrations of the CFMI present in the first steps of purification of serum and medium have been calculated in terms of units of inhibition. Generally, the units of inhibition present in serum and medium fractions from heterozygotes are close to one‐half of that in fractions from homozygous sources. Analogous fractions concentrated from a normal (non‐CF) source never inhibited mucociliary activity, even when tested at nearly 100 times the CF concentration. Ciliary assays utilizing oyster gills are essential for monitoring fractionation procedures aimed at purifying the CFMI, and have been shown to be capable and reliable enough to do so.
Trisomy 4p: five new observations and overview
Authors: Dallapiccola B. , Mastroiacovo P. P. , Montali E. , Sommer Annemarie
Published: July 2010

Five new cases of trisomy of the short arm of chromosome No. 4 are presented. In two brothers the abnormality arose from segregation of the 4p chromosome present in the mother who is a carrier of a centric fission of one No. 4 chromosome. In the other three patients, the chromosome imbalance originated from segregation of a balanced maternal 3p/4q or 4/22 translocation.

The available data, derived from the 4p trisomics reported so far, are adequate to establish trisomy of the short arm of chromosome No. 4 as a definite clinical entity.

The most outstanding findings include growth retardation of prenatal onset, severe mental deficiency, microcephaly and a peculiar constellation of facial dysmorphisms. The dermatoglyphic patterns and the radiological findings may help towards a correct interpretation of the syndrome.
Chylothorax in two mongoloid infants
Authors: Yoss Barry S. , Lipsitz Philip J.
Published: July 2010

Two newborns with stigmata of Down syndrome required resuscitation at birth because of unilateral congenital chylous pleural effusion. After thoracentesis, ventilation was improved. Congenital chylous pleural effusion in newborns with Down syndrome has not previously been described. Pleural effusion at birth must be promptly diagnosed and aspirated.
Central nervous system arteriovenous malformations in multiple generations of a family with hereditary hemorrhagic telangiectasia
Authors: King Charles R. , Lovrien Everett W. , Reiss Jacob
Published: July 2010

Hereditary hemorrhagic telangiectasia is described in four generations of a kinship. The family is unique in that three generations manifest central nervous system vascular disease, which was pathologically confirmed in two generations. Genetic linkage was not identified for 32 genetic markers studied. The literature is reviewed for patients with central nervous system arteriovenous malformations and hereditary hemorrhagic telangiectasia. The pathogenesis of the disease is discussed, and therapeutic modalities are considered.
Sclerosteosis — An autosomal recessive disorder
Authors: Beighton Peter , Davidson James , Durr Lecia , Hamersma Herman
Published: July 2010

Sclerosteosis is a rare, potentially lethal skeletal disorder in which massive bony overgrowth leads to facial distortion, cranial nerve compression and progressive rise in intra‐cranial pressure. Gigantism and syndactyly of the 2nd and 3rd fingers are associated features. In a nationwide investigation in South Africa, 25 affected individuals in 15 Afrikaner kindreds have been studied. The minimum prevalence of the condition in this community is 1 in 75,000. Analysis of pedigree data confirms that sclerosteosis is an autosomal recessive condition. The gene frequency in the Afrikaner people is estimated at 0.0035, with 10,000 clinically normal heterozygotes in this population. Heterozygote detection may be possible on a basis of recognition of minor changes which are apparent on skull radiographs.
Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality
Authors: Shokeir M. H. K.
Published: July 2010

A syndrome of congenital and permanent universal alopecia, involving absence of scalp hair, eyebrows, eyelashes, axillary and pubic hair, and the rest of the body hair is reported. Mental subnormality was noted in eight and psychomotor epilepsy in seven out of 12 affected individuals. Pyorrhea was observed in all ascertained patients. No abnormality of nails or skin (apart from absence of hair) was noted.

The disorder, which affected seven females and five males from six sibships, was transmitted through four generations. Utilizing the simple sib method, a ratio of 6/12 was obtained for affected individuals. The vertical transmission of the disorder, implication of both sexes, male to male transmission, and the 1:1 (affected: unaffected) segregation ratio support autosomal dominant inheritance. Penetrance appears to be complete.
Selective hypoaldosteronism in Iranian Jews: An autosomal recessive trait
Authors: Cohen Tirza , Theodor Rachel , Rösler Ariel
Published: July 2010

A salt‐wasting syndrome associated with high plasma renin activity and inappropriately low aldosterone levels was observed among eight Jewish families from Iran. Aldosterone deficiency was due to an inborn error selectively involving the terminal portion of the biosynthetic pathway and characterized by an enzymic block in the conversion of 18‐hydroxycorticosterone to aldosterone. The analysis of the eight pedigrees, including 12 affected children, shows a high coefficient of inbreeding. Genetic analysis, by two independent methods, strongly suggests an autosomal recessive mode of transmission of the syndrome.
A new estimate of the achondroplasia mutation rate
Authors: Gardner R. J. M.
Published: July 2010

An estimate is derived of the mutation rate of achondroplasia, based upon the accumulated data of recent newborn studies in four cities. In a total of 242,257 births, seven infants had mutant achondroplasia, the diagnosis being confirmed radiologically in all but one. From this, the rate of mutation of the normal to the achondroplasia allele is calculated to be 1.4 × 10‐‐5± standard error 0.5 × 10‐‐5. Certain shortcomings of this estimate are discussed.
Partial 7q trisomy
Authors: Berger R. , Turc C. , Wachter H. , Begue G.
Published: July 2010

A case of partial 7q trisorny is reported, resulting from a maternal translocation t(7;9) (q31;p24). The phenotypic expression of the 7q trisomies is discussed.
Serum pancreatic isoamylases in the diagnosis of cystic fibrosis heterozygotes: A non‐valuable test
Authors: Schiøtz P. O. , Magid E.
Published: July 2010

A group of 102 obligate heterozygotes for the cystic fibrosis gene were examined for genetic type of pancreatic isoamylases as well as enzyme activity of pancreatic isoamylases, salivary isoamylases and total amylase in serum. The analysis was performed using electrophoretic separation for detection of the various types of isoamylases, and their relative activity was determined by means of densitometry. The activities of salivary isoamylases and total amylase in serum showed no significant differences between the cystic fibrosis heterozygotes and a control group. The frequency of the variant gene for pancreatic isoamylase was also the same as in the controls. The mean value for pancreatic isoamylase was slightly higher in the cystic fibrosis heterozygotes than in the control group (0.05 >P> 0.02).

There was no correlation between pancreatic isoamylase values and the three types of cystic fibrosis on the basis of metachromatic staining of cultured fibroblasts.
Translocation 9q/13q resulting in duplication (trisomy 9pter→9q22) and deficiency (monosomy 13pter→13q12)
Authors: Howard‐Peebles Patricia N. , Yarbrough Karen M. , Stoddard Gayle R. , Rary Jack M.
Published: July 2010

A profoundly retarded, 12‐year‐old female is described. Her phenotype is compatible with the clinical features of the trisomy 9p syndrome. Cytogenetic analyses showed her to be trisomic for 9pter→9q22 and monosomic for 13pter→13q12, as the result of adjacent‐2 segregation during meiosis in her mother. The family pedigree shows this (9;13) translocation to be present in at least three generations.
Infantile polymyoclonus: Its occurrence in second cousins
Authors: Robinson Geoffrey C. , Jan James E. , Dunn Henry G.
Published: July 2010

Two second cousins with infantile polymyoclonus are described. All other published cases in the literature are sporadic, and the occurrence of two cases of this exceedingly rare disorder in one family raises the possibility of genetic transmission. Careful examination of the family pedigree is indicated in this disorder.
Linkage studies on the Marinesco‐Sjøgren syndrome and hypergonadotropic hypogonadism
Authors: Skre H. , Berg K.
Published: July 2010

Marinesco‐Sjøigren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occur together in 9 out of 10 affected individuals. The last patient had Marinesco‐Sjøigren syndrome without manifestations of hypogonadism, and similar findings were observed in two affected sisters from a third kindred.

On the hypothesis that the concurrence of Marinesco‐Sjøigren syndrome and hypergonadotropic hypogonadism was caused by linkage, a lod score analysis was conducted. Four sibships in the two kindreds were informative with respect to linkage. At the recombination fraction 0.05, the lod score exceeded 3.

If linkage causes the concurrence of Marinesco‐Sjøigren syndrome and hypergonadotropic hypogonadism in these kindreds, the linkage is close.

No linkage was observed between the clinical syndromes and 17 marker systems.
Trisomy 9p syndrome and XYY syndrome in siblings
Authors: Gustavson K.‐H. , Wahlström J.
Published: July 2010

Two brothers are described, who have the 9p+ syndrome, due to a balanced translocation (9:22) inherited from the mother, Another brother had an XYY karyotype. The 47,XYY case and his youngest trisomy 9p brother also had ectopia lentis.
Sex‐linked chondrodysplasia punctata?
Authors: Happle K. , Matthiass H.‐H. , Macher E.
Published: July 2010

Widespread atrophic lesions and pigmentary disturbances of the skin, distributed in a linear or whorled pattern, are seen in some patients with chondrodysplasia punctata of the Conradi‐Hünermann type. Arguments are presented in favor of the hypothesis that this association of anomalies constitutes a distinct genetic disorder, which is inherited as an X‐linked dominant trait lethal in hemizygous males.
Two XX males in one family and additional observations bearing on the etiology of XX males
Authors: de la Chapelle Albert , Schröder Jim , Murros Juhani , Tallqvist Gustav
Published: July 2010

Two XX males who were second cousins are reported. A genetic mechanism producing maleness is suggested. The putative factor had been transmitted solely through males, which excludes the possibility of a heritable X‐Y interchange.

Recent reports on fluorescent Y chromatin in Sertoli cells of XX males prompted investigations into the fluorescence patterns of testicular cells. Sertoli cells from three XX males displayed brightly fluorescent spots, but it was concluded that they did not represent Y chromosomes. Evidence for this conclusion was obtained from the study of testicular fluorescence in XX, XXY and XY males.

No visually detectable cytogenetic evidence for an increase in length or altered banding pattern of one of the X chromosomes was found in three XX males.

We conclude that an autosomal gene is the most likely explanation of the male differentiation in the two XX males presented here.
Morphology of the placenta in fetal I‐cell disease
Authors: Rapola Juhani , Aula Pertti
Published: July 2010

Placentas were studied from three interrupted pregnancies of a mother whose first live‐born child had I‐cell disease (mucolipidosis II). I‐cell disease of the fetus was shown by investigation of the amniotic fluid, fetal cells and the aborted fetus in two pregnancies, but in the third case placenta was the only available product of conception. In every placenta extensive vacuolization of the syncytiotrophoblastic layer of the chorionic villi and chorionic mesenchymal cells was found. In electron microscopy the inclusions were identical to those of other tissues in I‐cell disease. The importance of histological study of placenta in unexplained spontaneous abortions needs to be emphasized, since this may be the only way of detecting new cases of lysosomal storage diseases.
Adrenoleukodystrophy (Siemerling‐Creutzfeldt disease): Heterozygote with two clonal fibroblast populations
Authors: Ropers H.‐H. , Zimmermann J. , Wienker T.
Published: July 2010

On the fifth day after subcultivation, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling‐Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous woman, both normal and morphologically defective colonies could be isolated. These findings suggest that the morphologic alterations are an expression of the defect in Siemerling‐Creutzfeldt disease. Furthermore, they suggest that the SCD locus is subject to lyonization.
Down syndrome due to partial trisomy 21q
Authors: Cervenka Jaroslav , Gorlin Robert J. , Djavadi Gholman Reza
Published: July 2010

A patient is reported with a typical Down syndrome phenotype, caused by partial trisomy of chromosome 21. Based on the present case and data from the literature, it is suggested that the Down phenotype is due to the trisomy of the distal portion of the band (q22) of chromosome 21.
46, X,X‐X terminal rearrangement /45, X mosaicism in a child with short stature
Authors: Becroft D. M. O. , Costello J. M. , Shaw R. L.
Published: July 2010

A phenotypically female child, investigated because of short stature, had abnormally large, often bipartite Barr bodies and a mosaicism of 45,X cells and cells with 46 chromosomes which included an exceptionally large metacentric chromosome (Xp +). G‐ and C‐banding established that the chromosome was derived from two substantially entire X chromosomes joined short arm‐to‐short arm, and was likely to be an isodicentric X with functional in‐activation of one centromere.
X‐linked skeletal dysplasia with mental retardation
Authors: Christian Joe C. , DeMyer W. , Franken E. A. , Huff J. S. , Khairi S. , Reed T.
Published: July 2010

A syndrome compatible with an X‐linked trait is described, affecting four male cousins in three sibships. The boys had skeletal anomalies, including short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges. In addition, they had moderate developmental retardation, and abducens palsies. Three of the four had glucose intolerance, and one was born with an imperforate anus.

Of five female obligate carriers studied, three had fusion of cervical vertebrae, three had some shortening of the middle phalanges and three had glucose intolerance.

The syndrome in this family was compared to previously reported syndromes, and the conclusion was reached that it represents a previously unreported X‐linked syndrome with minor manifestations in carrier females.
Heterozygote detection in phenylketonuria
Authors: Güttler Flemming , Hansen Gert
Published: July 2010

Phenylalanine loading was carried out on 105 parents of children with phenylalanine hydroxylase deficiency and 33 apparently normal individuals with no family history of phenylketonuria. The best discriminant was found to be the logarithmic transformation of the slope of the rise in serum tyrosine multiplied by the maximum serum tyrosine concentration over the maximum serum phenylalanine concentration obtained after an oral load with a pure solution of L‐phenylalanine. The overlap between heterozygotes for phenylketonuria and normal homozygotes was 2.4%. The distribution of the discriminant values suggested three heterozygous phenotypes for phenylalanine hydroxylase deficiency, and the phenotypic combination of parents could be correlated to the phenotype of their affected offspring, i.e. classical phenylketonuria, mild phenylketonuria or hyperphenylalaninemia. The probability of heterozygosity for phenylketonuria was determined by means of the distribution of the discriminant values of the heterozygotes and that of normal homozygotes. The likelihood of being a heterozygote was corrected for the genetic background of the person requiring genetic counseling, and was finally expressed as the percentage probability of being a heterozygote for phenylketonuria.
A case of double trisomy in a liveborn infant: 48, XXY, + 13
Authors: Mailhes John B. , Moore Charleen M. , Gershanik Juan J.
Published: July 2010

Ambiguous genitalia, microcephaly, microphthalmia, hypotelorisrn, single choanal opening, low‐set ears, simian creases, Tetralogy of Fallot, bilateral hydronephrosis, and absence of the left ureter characterized an infant that died 1 hour postpartum with the karyotype 48,XXY,+13.
Congenital dislocation of the hip joint in Northern Sweden: Neonatal diagnosis and need for orthopaedic treatment
Authors: Beckman L. , Lemperg R. , Nordström M.
Published: July 2010

The incidence of neonatally diagnosed congenital dislocation of the hip joint (CDH) was found to vary between three hospitals in Northern Sweden. The incidence was 10.0, 7.1 and 3.5 per thousand in hospitals A, B and C, respectively. The incidence increased during the period 1960–73 in hospitals A and B, but not in hospital C. At these hospitals the number of cases needing prolonged orthopaedic treatment showed an inverse relationship to the incidence of neonatally diagnosed CDH.
Menkes Kinky Hair Syndrome: Is it a treatable disorder?
Authors: Garnica A. D. , Frias J. L. , Rennert O. M.
Published: July 2010

A male infant with Menkes Kinky Hair Syndrome was treated with a 3‐week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a clinically significant abnormality in copper metabolism in utero.
Familial occurrence of histiocytosis
Authors: Frisell E. , Björkstén B. , Holmgren G. , ÅNgström T.
Published: July 2010

The clinical and histological findings of four children with lethal histiocytosis are reported. The children belonged to two sibships and originated from a Swedish geographical isolate. Consanguinity between the parents was established for one of the sibships, belonging to a pedigree in which malignant disease occurred in two generations. The observations indicate that the type of histiocytosis investigated is caused by homozygosity for a single recessive gene. The association between histiocytosis and malignancy is discussed.
Ganglioside GM2 N‐acetyl‐ß‐D‐gafactosaminidase and asialo GM2 (GA2) N‐acetyl‐ß‐D‐galactosaminidase; studies in human skin fibroblasts
Authors: O'Brien John S. , Norden Anthony G. W. , Miller Arnold L. , Frost Russel G. , Kelly Thaddeus E.
Published: July 2010

Ganglioside GM2 and its asialo‐derivative, GA2 were radiolabeled in their N‐acetyl‐D‐galactosaminyl moieties by oxidation with galactose oxidase and reduction with tritiated sodium borohydride. Specific activities of 6 × 104 dpm/nmol (GM2) and 1.8 × 106 dpm/nmol (GA2) were achieved. About 98% of the label was in N‐acetyl‐D‐galactosamine. Using these substrates, an assay was developed for GM2‐N‐acetyl‐β‐D‐galactosaminidase (E.C.3.2.1.30) and GA2‐N‐acetyl‐β‐D‐galactosaminidase (E.C.3.2.1.30) activities in human cultured skin fibroblasts. The products of the GM2 cleaving reaction were identified as N‐acetylgalactosamine and ganglioside GM3‐ Both GM2 and GA2 cleaving activities were stimulated about 5‐fold by purified sodium taurocholate, and this stimulation was inhibited by neutral detergents, lipids and albumin at low concentrations. Addition of various salts, reducing agents and a protein activator factor from human liver of Li et al. (1973) did not stimulate GM2‐N‐acetyl‐β‐D‐galactosaminidase activity beyond that found with sodium taurocholate. Under optimal conditions, control fibroblast supernates cleaved ganglioside GM2 at a rate of 3.7 nmol/mg protein/h compared to 1100 for GA2‐N‐acetyl‐β‐D‐galactosaminidase and 4700 for 4‐methylumbelliferyl‐N‐acetyl‐β‐D‐glucosaminidase. Supernates from two patients with Tay‐Sachs disease had markedly reduced activity levels for GM2‐N‐acetyl‐β‐D‐galactosaminidase but not for the other two substrates. Supernates from two patients with Sandhoff's disease had reduced activities for all three substrates. A supernate from one patient with juvenile GM2 gangliosidosis cleaved GM2 at a somewhat faster rate than those from Tay‐Sachs or Sandhoff's patients. Two healthy adult women with markedly reduced hexosaminidase A activities using 4MU‐N‐acetyl‐β‐D‐glucosaminide as substrate had approximately half‐normal activities using GM2 as substrate. A patient with the Tay‐Sachs phenotype but with a partial deficiency of hexosaminidase A using the 4‐MU substrate had a profound deficiency using GM2 as substrate. In such unusual hexosaminidase mutants, assays using GM2 as substrate are better indicators of phenotype than those using synthetic substrates.
A case report of a presumptive +i(18p) associated with serum IgA deficiency
Authors: Ogata Kohei , Iinuma Kazuso , Kamimura Kikuro , Morinaga Ryoko , Kato Junko
Published: July 2010

The case of a 4‐month‐old male infant with retarded psychomotor development and multiple anomalies is presented. Cytogenetic studies on peripheral blood and skin cultures revealed a normal male complement with a supernumerary small metacentric chromosome. According to its size and its banding patterns, the metacentric chromosome was postulated to be an isochromosome for the short arm of number 18. A deficiency of serum IgA was observed in this patient.
The distribution of ancestral secondary cases in Parkinson's disease
Authors: Young William I. , Martin William E. , Anderson V. Elving
Published: July 2010

Recent evidence suggests a genetic mode of transmission of Parkinson's disease. A multifactorial mechanism is likely, but autosomal dominance with reduced penetrance has not been excluded.

The distribution of ancestral second‐degree relatives with Parkinson's disease was evaluated in 12 families. Affected relatives were bilaterally distributed more often than would be expected for autosomal dominance.

The distribution of ancestral secondary cases suggests a multifactorial etiology for most cases of Parkinson's disease. The possibility of dominant gene inheritance in some families is not entirely ruled out.
Genetic heterogeneity of hypoxanthine‐phosphoribosyl transferase in human fibroblasts of 3 families*
Authors: Willers I. , Held K. R. , Singh S. , Goedde H. W.
Published: July 2010

Incorporation of hypoxanthine, resistance to 8‐azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch‐Nyhan syndrome, from two families with variant H‐PRT mutations and three cell strains from patients with the Lesch‐Nyhan syndrome were investigated. Cells from patients with the Lesch‐Nyhan syndrome showed almost no hypoxanthine incorporation and resistance to concentrations of 8‐azaguanine up to 10‐3 M, whereas cells of patients with partial H‐PRT deficiency demonstrated variant patterns of hypoxanthine uptake and partial resistance to 8‐azaguanine. Lyophilisation of fibroblast sediment from patients with the Lesch‐Nyhan syndrome and patients with variant H‐PRT mutations showed activation of the deficient or partially deficient H‐PRT enzyme. No such activation was observed in healthy controls. Activation of lyophilised fibroblast extract from patients and controls was not obtained. These results suggest that H‐PRT could be associated with the cell membranes.
Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21
Authors: Pfeiffer Rudolf A. , Kessel Erika K. , Soer Karl‐Heinz
Published: July 2010

Partial trisomy of the distal portion of the long arm of chromosome no. 21, resulting from a (familial) translocation between the chromosomes no. 19 and 21 in a female twin with Down's syndrome, supports the hypothesis that triplication of 21q22 is the cause of the physical signs of mongolism. Partial trisomy of the remaining segments of chromosome no. 21 due to a (familial) translocation between the chromosomes no. 4 and 21, however, may only cause mental deficiency.
Dermatoglyphics in Cri du Chat syndrome
Authors: Shiono Hiroshi , Kadowaki Jun‐Ichi , Kazama Hisashi
Published: July 2010

The dermatoglyphics of 33 Japanese (20 females and 13 males) with Cri du Chat syndrome were compared with 544 male and 129 female controls. In these cases, 18 cases were described only with regard to simian crease and distal axial triradius.

It was found that these patients showed high frequencies of certain characteristics such as whorl pattern, arch pattern, thenar pattern, bilateral simian creases and distally displaced axial triradii on both palms (t').
The 9p‐ deletion syndrome A patient with a 45,XX,‐9,‐15, + t(9/15) constitution due to maternal 3:l meiotic disjunction
Authors: Bergamo F. , Crosato F. , Francesconi D. , Pasquali F. , Zuffardi Orsetta
Published: July 2010

Deletion of the short arm of chromosome 9, derived from a 3:1 meiotic segregation in the mother, carrier of a balanced 9/15 translocation, was found in a 3‐year‐old female. Severe psychomotor retardation with delayed speech, brachicephaly, flat occiput, hypertelorism and long upper lip were the main signs in the girl.
Heritability of “sinking” pre‐beta lipoprotein level: a twin study
Authors: Hewitt David , Milner Jean , Breckenridge Carl , Maguire Graham
Published: July 2010

In a twin series at the Toronto Twin Register, University of Toronto, the “sinking” pre‐beta lipoprotein fraction (sp β), quantitatively determined, was found to have a heritability index of 0.98. If confirmed, this warrants use of spβ concentration as a genetic marker. Its importance may lie in its association with angina of effort and myocardial infarction.
Two cases of Down syndrome with unusual de novo translocation*
Authors: Verma Ram S. , Peakman David C. , Robinson Arthur , Lubs Herbert A.
Published: July 2010

Two children with the clinical features of Down syndrome were found to have several unusual cell lines. In both cases the same reverse tandem translocation between two 21 chromosomes was present in one line. This may be an unstable rearrangement. In addition, the findings offer some support for current efforts to localize the portion of chromosome 21 responsible for clinical features of Down syndrome to band 21q22. Acridine orange R banding was found to be especially useful in the identification of the break points on the translocations. The origin of the abnormality was found to be paternal in one case and was indeterminate in the second.
Non‐fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism
Authors: Fonatsch Christa , Flatz Sibylle D. , Freyman R.
Published: July 2010

A 45,X/46,XY mosaicism was found in a male infant with stigmata of Turner's syndrome but normal male external genitalia. In contrast to the Y chromosome of his father, the Y chromosome of the patient does not display either the characteristic brilliant fluorescence or the typical dark heterochromatin staining of the distal long arm. Furthermore, DNA replication in the abnormal Y chromosome was shown to be premature. Mechanisms leading to the observed abnormalities are discussed.
Chromosome polymorphisms in karyotypes from amniotic fluid cell cultures
Authors: Barker P. E. , Mohandas T. , Kaback M. M.
Published: July 2010

Frequencies of 12 fluorescent chromosome polymorphisms were scored from Q‐banded karyotypes derived from 108 midtrimester diagnostic amniotic fluid cell cultures. The most frequent variants were the bright fluorescent short arm of chromosome 13 (P= 0.458) and the bright fluorescent marker close to the centromere on chromosome 3 (P = 0.426). The polymorphism pattern was found to be different between the maternal (blood culture) and fetal (amniotic fluid cell culture) karyotypes in each of the 25 paired cases studied. This technique is valuable in prenatal diagnosis to exclude possible maternal cell contamination and outgrowth in cases where the amniotic fluid cell cultures reveal a female karyotype.
Variable X‐linked recessive hypopituitarism with evidence of gonadotropin deficiency in two pre‐pubertal males
Authors: Zipf W. B. , Kelch R. P. , Bacon G. E.
Published: July 2010

Two half‐brothers with short stature secondary to growth hormone deficiency and a family history implicating X‐linked transmission were studied extensively for other endocrine abnormalities. The proband had a normal physical examination, except for small stature and small external genitalia. ACTH and TSH release were normal. LH and FSH responses during an i.v. GnRH test were severely blunted. His half‐brother also had a normal physical examination, except for severe short stature and very small external genitalia. Deficiencies of ACTH, and TSH as well as GH were documented. An i.v. GnRH test showed no LH or FSH response. These studies support the existence of an X‐linked recessive form of hypopituitarism and portend the clinical usefulness of the i.v. GnRH test in evaluating gonadotropin reserve.
Apparently balanced de novo translocations in patients with abnormal phenotypes: Report of 6 cases
Authors: Tharapel Avirachan T. , Summitt Robert L. , Wkroy Robert S. , Martens Paula
Published: July 2010

Six patients have been ascertained because of abnormal phenotypes but with apparently balanced de novo translocations. Five of them were mentally retarded with multiple congenital anomalies. The sixth patient had normal mental development but revealed ambiguous genitalia and multiple congenital anomalies. No syndromal diagnosis was possible in any of the six cases. The appearance of apparently balanced reciprocal translocations in association with abnormal phenotype may be coincidental, or the two may be causally related. If the latter is true, the causal relationship may be based upon: I) a submicroscopic chromosomal loss, 2) position effect, or 3) a mutation at the site of the break in one or both translocated chromosomes.
Low serum dopamine‐β‐hydroxylase activity in the dysequilibrium syndrome
Authors: Gustavson K.‐H. , Ross S. B. , Sanner G.
Published: July 2010

In eight children with the dysequilibrium syndrome, an autosomally recessively inherited syndrome of cerebral palsy, low serum dopamine‐β‐hydroxylase activity was found. This indicates a diminished activity of the sympathetic nervous system in this syndrome.
DNA cytophotometry in pre‐natal cytogenetic diagnosis
Authors: Mayall B. H. , Carrano A. V. , Golbus M. S. , Comte F. A. , Epstein C. J.
Published: July 2010

DNA cytophotometry was used to resolve a cytogenetic ambiguity involving a possible deletion of part of the short arm of chromosome 18 in cells obtained by amniocentesis. Measurements of chromosomal DNA content were within normal limits. This is the first time that DNA cytophotometry has been used in cytogenetic diagnosis; it illustrates the potential of this new approach to cytogenetics.
Prenatal diagnosis of Meckel syndrome: alpha‐feto protein and beta‐trace protein in amniotic fluid
Authors: Chemke Juan , Miskin Abraham , Rav‐Acha Zipora , Porath Avi , Sagiv Marinel , Katz Zvi
Published: July 2010

Meckel syndrome was diagnosed prenatally by α‐feto protein and β‐trace protein determinations in amniotic fluid. No central nervous system anomalies were detected in the affected fetus, who presented with large polycystic kidneys and polydactyly. An excessive synthesis of these fetal proteins by the dysplastic kidneys is suggested, allowing for the possibility of prenatal diagnosis of polycystic kidneys in families at risk for this disease.

The present family emphasizes the importance of amniocentesis in pregnancies at risk for Meckel syndrome, regardless of the presence of a defect in neural tube closure.
The incidence of Duchenne muscular dystrophy in the South East of Scotland
Authors: Brooks Andrew P. , Emery Alan E. H.
Published: July 2010

In a survey carried out to determine the incidence of Duchenne muscular dystrophy in the South East of Scotland, 47 cases were ascertained among 177,413 live male births for the years 1953 to 1968. The overall incidence is 1 case in 3,775 live male births (26.5 ± 3.2 × 10‐‐3). This incidence figure has been compared with those reported in nine other studies, and any differences appear likely to be due to varying degrees of ascertainment. So far there is no evidence of any decrease in incidence of the disease in S.E. Scotland as a result of genetic counselling and antenatal foetal sexing.
Trisomy 9 mosaicism
Authors: Lewandowski Raymond C. , Yunis Jorge J.
Published: July 2010

The first live‐born female with trisomy 9 mosaicism is reported. This patient, like four others in the literature, has a characteristic face with narrowed temples, enophthalmus, large nose and pouched cheeks, as well as skeletal abnormalities of the extremities, including hip dislocation, limited joint mobility and bone hypoplasia.
Mild and severe Hunter syndrome (MPS II) within the same sibships
Authors: Yatziv Shaul , Erickson Robert P. , Epstein Charles J.
Published: July 2010

X‐linked Hunter syndrome (MPS II) is presently thought to exist in two clinically and genetically distinct forms, mild and severe, which are biochemically indistinguishable. However, two sibships have been studied in which both mildly and severely affected children are present. Therefore, genetic counseling for families with MPS II should be reconsidered to take into account the possibility of heterogeneity within a family in terms of the degree of psychornotor retardation and potential longevity.
Heredity of idiopathic haemochromatosis: A study of 106 families
Authors: Simon Marcel , Alexandre Jean‐Luc , Bourel Michel , Marec Bernard Le , Scordia C.
Published: July 2010

More than 80 % of the first degree relatives of 106 patients with iron overload ‐ 97 with idiopathic haemochrornatosis (I.H.) and nine with haemosiderosis secondary to alcohol induced liver disease (A.H.) ‐ were examined. Physical examination and measurement of plasma iron level and UIBC were done in all subjects; relatives who presented with some anomaly were submitted to a desferrioxamine test and, if the latter showed a high urinary iron output, to a liver biopsy. While absent in relatives of A.H. patients, iron overload was present in 78 out of 499 relatives of I.H. patients: 29 major and 49 minor forms. The major forms involved the sibships almost exclusively. The genetic analysis showed much evidence in favour of a recessive or rather intermediate form of inheritance, with heterozygous developing minor forms. However, other modes of transmission, especially poly‐genic (probably oligogenic), cannot be totally excluded. Data from recent studies showing a strong correlation between I.H. and certain HLA antigens do not conflict with the above conclusions.