bluuebunny/crossref_metadata_2025 huggingface dataset:
Molecular genetic and immunological analysis of dystrophin of a young patient with X‐linked muscular dystrophy
Authors: Ikeya Kiyoko , Saito Kayoko , Hayashi Kensuke , Tanaka Hikaru , Hagiwara Yasuko , Yoshida Mikiharu , Yamauchi Akemi , Fukuyama Yukio , Ishiguro Tsuneo , Eguchi Chikahiko , Ozawa Eijiro
Published: June 2005

We examined the nucleotide sequence of deleted part of dystrophin mRNA and its translational product with immunoblot and immunohistochemical methods in a 6‐year‐old boy with a deleted DMD/BMD gene. On Southern blot analysis of his genomic DNA, we found a deletion of exons 10 to 37 in the DMD/BMD gene, which was expected to preserve the translational open reading frame (ORF). Dystrophin mRNA from his biopsy sample was amplified by polymerase chain reaction (PCR) and sequenced. The mRNA lacked the sequence corresponding to the gene from exons 10–37, and the translational ORF was preserved. The transcript was expected to code a 260 kDa protein. Dystrophin expressed in this patient was investigated with immunological methods. A 260 kDa protein was detected by immunoblot analysis with antidystrophin antiserum against nondeleted regions. These observations confirmed the preservation of the reading frame and the 260 kDa protein was produced as a mutant dystrophin. All these are compatible with the diagnosis of BMD. However, the immunohistochemical pattern of his muscle cells was peculiar. With deleted‐region‐directed antiserum, the membrane was not stained at all as in DMD patients. In contrast, with nondeleted‐region‐directed antiserum, all the muscle cell membrane was stained continuously as in non‐DMD/BMD individuals. These are quite different from the staining pattern in most BMD patients where muscles are stained patchily or discontinuously. © 1992 Wiley‐Liss, Inc.
Recurrence of extrahepatic biliary atresia in two half sibs
Authors: Gunasekaran Thirumazhisai S. , Hassall Eric G. , Steinbrecher Urs P. , Yong Siu‐Li
Published: June 2005

Extrahepatic biliary atresia (EHBA) usually is a sporadic disorder. Familial cases, including occurrence in sibs and twins, have been reported. We report the first recurrence of EHBA in two half sibs born to a common father and unrelated mothers and suggest the possibility of gonadal mosaicism for a new dominant mutation. © 1992 Wiley‐Liss, Inc.
Neu‐Laxova syndrome: Prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations
Authors: Shapiro Israel , Borochowitz Zvi , Degani Shimon , Dar Hanna , Ibschitz Izu , Sharf Mordechai
Published: June 2005

A diagnosis of the Neu‐Laxova syndrome (NLS) was made by ultrasonography at 32 wks of gestation. Ultrasonographic examination showed intrauterine growth retardation (IUGR), Dandy‐Walker anomaly, choroid plexus cysts, receding forehead and microcephaly, bilateral cataract without prominent eyes, scalp edema with no generalized edema, retrognathia, curved penis, and flexion deformities of limbs.

The findings in this case are consistent with NLS; however, they did not fit any of Curry's [1982] groups. Massive swelling of hands and feet were among the main manifestations in classic NLS cases. In the case presented herein, edema was noted only in the scalp. This might shed further light on the question of variability vs. heterogeneity in the NLS.

This case shows the existing possibility of an early diagnosis of NLS and adds Dandy‐Walker anomaly and choroid plexus cysts as new findings to this syndrome. © 1992 Wiley‐Liss, Inc.
Additional case of neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia
Authors: Santolaya Jose M. , Grijalbo Alfonso , Delgado Alfonso , Erdozaín Gabriel
Published: June 2005

We report on a 3‐1/2‐year‐old Spanish girl with the Neuhäuser megalocornea and mental retardation syndrome. A review shows that megalocornea, mental retardation, and, presumably, hypotonia, are the major manifestations for diagnosis. The facial appearance of the typical cases is characterised by frontal bossing, broad nasal bridge, mild hypertelorism, long upper lip, and small mandible. © 1992 Wiley‐Liss, Inc.
Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals
Authors: Brueton Louise A. , Reeve Ann , Ellis Richard , Husband Peter , Thompson Elizabeth M. , Kingston Helen M.
Published: June 2005

Cleidocranial dysplasia is an autosomal dominant, generalised skeletal disorder characterised by variable clavicular hypoplasia, frontal bossing, multiple Wormian bones, and delayed eruption of the teeth. The gene locus for this syndrome has not yet been assigned. Three individuals with manifestations of cleidocranial dysplasia associated with rearrangements of chromosome 8q22 are described. The evidence presented suggests that the gene for cleidocranial dysplasia may be located on chromosome 8q in humans in a region showing homology to mouse chromosome 3. © 1992 Wiley‐Liss, Inc.
Pallister‐Hall syndrome associated with an unbalanced chromosome translocation
Authors: Kuller Jeffrey A. , Cox Victoria A. , Schonberg Steven A. , Golabi Mahin
Published: June 2005

We report 3 cases of Pallister‐Hall syndrome involving hypothalamic hamartoblastoma, hypopituitarism, cranial, and limb abnormalities. The first 2 cases represent the first apparent sibs reported with this syndrome. Patient 1 represents the first known patient with this syndrome with an abnormal karyotype.
Hypothesis: Jadassohn nevus phakomatosis: A paracrinopathy with variable phenotype
Authors: Kousseff Boris G.
Published: June 2005

It has been postulated that the phakomatoses are paracrine growth regulation disorders (paracrinopathies). To determine how Jadassohn nevus phakomatosis (JNP) may fit such a pathogenetic model, a phenotype analysis of 13 propositi with JNP and a review of most reported JNP patients were done. The phenotypes of the propositi and the reviewed patients showed a great variability from a solitary congenital epidermal nevus to extensive cutaneous lesions with associated severe noncutaneous anomafies. Review of long‐term observations of JNP patients demonstrated considerable phenotypic changes within and beyond the boundaries of the nevi. The changes included a multitude of postnatal rare benign and/or malignant tumors and unusual manifestations: renal rickets, hepatomegaly, visceral cysts, vasculopathy, and even gangrene. Thus, a life‐long predisposition to dysregulation of paracrine growth factors (GFs, regulatory peptides, peptide regulatory factors, and cytokines), foremost somatomedin‐C (Sm‐C, IGF‐I), epidermal, fibroblast, platelet‐derived GFs, and transforming GF‐β is implied. Laboratory evidence for the presumed GF dysregulation in the phakomatoses came from tissue culture study of patients with neuro‐fibromatosis type 1 (NF‐1). Compared to controls their “normal” skin showed ultrastructural changes of markedly increased number of melanin macroglobuli within the melanocytes. Paracrine GFs as relevant to hamartomatous growth were incriminated by radioimmunoassays of cutaneous neurofibromas showing two‐fold or greater increase of Sm‐C levels compared to the levels in the adjacent skin. Thus, NF‐1 appears to be a paracrinopathy. JNP shows many more dynamic changes throughout the life span of the patients than NF‐1. In the near future paracrinology may aid endocrinology and oncology in treating patients with disorders of these three growth mechanisms in man. © 1992 Wiley‐Liss, Inc.
Encephalocraniocutaneous lipomatosis and the Proteus syndrome: Distinct entities with overlapping manifestations
Authors: McCall Sherman , Ramzy Magda I. , Cure Joel K. , Pai G. S.
Published: June 2005

We have studied three children with cutaneous (epidermal nevi), subcutaneous (lipomas, plantar skin thikening), vascular (hemangioma, lymphangioma), skeletal (osteoma, exostosis, localized hypertrophy), and neurological (hydrocephaly, lissencephaly, partial agenesis of the corpus callosum) developmental defects associated with the Proteus syndrome and related hamartoneoplastic conditions. We compared our findings in these three patients with those of 50 others with Proteus syndrome and nine with encephalocraniocutaneous lipomatosis (ECCL) reported in the literature. We found that Proteus syndrome and ECCL have distinct identities even though some clinical manifestations are shared by both and a few patients have manifestations of both conditions. © 1992 Wiley‐Liss, Inc.
New multiple congenital anomalies: Mental retardation syndrome (MCA/MR) with facio‐cutaneous‐skeletal involvement
Authors: Borochowitz Zvi , Pavone Lorenzo , Mazor Galia , Rizzo Renata , Dar Hanna
Published: June 2005

Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which has been designated the facio‐cutaneous‐skeletal (FCS) syndrome and which includes mental retardation with specific sociable, humorous behavior, characteristic facial appearance, excessive generalized skin, postnatal growth failure, and skeletal involvement. Consanguinity was noted in 2 patients, thus autosomal recessive inheritance is suggested. © 1992 Wiley‐Liss, Inc.
Pigmentary dysplasias and chromosomal mosaicism: Report of 9 cases
Authors: Ohashi Hirofumi , Tsukahara Masato , Murano Ichiro , Naritomi Kenji , Nishioka Kazue , Miyake Susumu , Kajii Tadashi
Published: June 2005

Chromosomes were studied in 9 individuals with pigmentary dysplasias of the skin and other abnormalities. Of the 9 individuals, 5 were chromosomal mosaics in both blood lymphocytes and skin fibroblasts (46,XY/47,XY,+13;46,XX/47,XX,+14;46,XY/47,XY,+18;46,XX/47,XX,+18;46,XX/47. XX,+mar), while the other 4 individuals were chromosomally normal in both tissues studied. The pigmentary dysplasias involved hypo‐ or hyperpigmented patches/flecks or lines/whorls. The latter ran along Blaschko lines on the back, abdomen and the limbs. These patterns varied not only between individuals but also between different regions of an individual. The possibility of chimerism was studied but ruled out (1/32 to 1/256) in 7 individuals, using chromosomal heteromorphisms in the patients and their parents as markers. © 1992 Wiley‐Liss, Inc.
Joubert syndrome: A review
Authors: Saraiva Jorge M. , Baraitser Michael
Published: June 2005

We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. We present the data regarding the clinical, neuroradiological, and ophthalmological manifestations and the prognosis of these 94 patients. We propose a classification of the patients with this diagnosis in 2 groups: those with retinal dystrophy and those without. Retinal dystrophy runs true in families and was never absent when renal cysts were reported. © 1992 Wiley‐Liss, Inc.
Craniorachischisis totalis and sirenomelia
Authors: Rodríguez José Ignacio , Palacios José
Published: June 2005

We report on a male infant with craniorachischisis totalis and sirenomelia, an association that seems to have been observed only 5 times before. In addition to these anomalies, the patient had hypoplasia of the phalanges of the right thumb. The pattern of associated malformations in infants with anencephaly and sirenomelia is reviewed. This condition, which combines cephalic and caudal defects of the embryo, could be considered an example of the “axial mesodermal dysplasia spectrum” and may be related to the midline developmental field concept. © 1992 Wiley‐Liss, Inc.
Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: A family presenting with congenital osteoma cutis
Authors: Izraeli Shai , Metzker Aryeh , Horev Gadi , Karmi Doron , Merlob Paul , Farfel Zvi
Published: June 2005

The syndrome of Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) is clinically and genetically heterogeneous. Classically, patients with PHP have the skeletal features of AHO, resistance to multiple hormones that work via cAMP such as parathyroid hormone and thyroid stimulating hormone, and deficient activity of Gs protein, the guanine nucleotide‐binding protein that stimulates adenylate cyclase. However, patients without hormone resistance but with AHO and Gs deficiency were described (PPHP), as well as patients with multiple hormone resistance but without AHO or Gs deficiency. In a few patients with deficient Gs activity, hypothyroidism rather than hypocalcemia was the initial presentation of the disorder. We describe here a new variant of the syndrome, affecting 5 individuals in a 3 generation family with AHO, normal Gs activity and hypothyroidism. In the first 2 generations, mild featuers of AHO were present. The 2 sibs in the third generation had severe manifestations of AHO, including mild mental retardation as well as hypothyroidism. Diagnosis of congenital osteoma cutis at birth of the proband led to the diagnosis of the family. Elucidation of the molecular defect will shed light on the relationship between hormone resistance and AHO, as well as on the physiological mechanism of hormonal signal transduction. © 1992 Wiley‐Liss, Inc.
Consanguineous marriage in Jordan
Authors: Khoury S. A. , Massad D.
Published: June 2005

We conducted a population‐based study of consanguineous marriages in Jordan. About two thousand households were interviewed. First cousin marriages were encountered in 32.03%, second cousin in 6.8%, distant relation in 10.5%, and no relation in 50% of all marriages, respectively. Inbreeding coefficients were compared with those of other countries. The most important variables affecting inbreeding were social tradition, religion, education, and place of residence—urban vs. rural. Secular trends appear rather stable since the early decades of the twentieth century, especially for first cousin marriages. Jordan society showed a deeply rooted traditional behavioral pattern when inbreeding is considered. © 1992 Wiley‐Liss, Inc.
Late‐onset localized junctional epidermolysis bullosa and mental retardation: A distinct autosomal recessive syndrome
Authors: Nakar Sasson , Ingber Arieh , Kremer Israel , Hodak Emmilia , Garty Ben‐Zion , Ben‐David Eitan , David Michael , Shohat Mordechai
Published: June 2005

We present 2 sibs with a local junctional type of epidermolysis bullosa associated with enamel defect of the teeth, dystrophic nails of the feet, and mental retardation. Subluxation of the lenses was evident in 1 of them. This combination found in a brother and a sister seems to represent a distinct autosomal recessive type of epidermolysis bullosa. © 1992 Wiley‐Liss, Inc.
Dominant syndrome with isolated cryptophthalmos and ocular anomalies
Authors: Saal Howard M. , Traboulsi Elias I. , Gavaris Paul , Samango‐Sprouse Carole A. , Parks Marshall
Published: June 2005

We report on a mother and daughter with nonsyndromal cryptophthalmos. Both patients have additional ocular anomalies, including microphthalmia, retinal dysplasia, and Peters anomaly. The periocular and lid changes seen in these individuals are distinct from those seen in typical cryptophthalmos. The apparent dominant mode of inheritance in this family distinguishes this condition from autosomal recessive isolated cryptophthalmos and from the Fraser or cryptophthalmos syndrome. © 1992 Wiley‐Liss, Inc.
Aarskog syndrome in a brazilian boy born to consanguineous parents
Authors: Guion‐Almeida M. L. , Richieri‐Costa A.
Published: June 2005

We report on a Brazilian boy (F = 1/16) born to consanguineous parents and presenting with typical Aarskog syndrome. Genetic aspects and phenotypic manifestations of this patient are compared with those of the (X‐linked) Aarskog syndrome and with the autosomal recessive faciodigitogenital syndrome. © 1992 Wiley‐Liss, Inc.
Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy
Authors: Dumic Miro , Gubarev Nikola , Sikic Nada , Roscher Adelbert , Plavsic Vesna , Filipovic‐Grcic Boris
Published: June 2005

We describe two sisters (40 and 42 years old) heterozygous for adrenoleukodystrophy who have multiple endocrine disorders. In addition to the characteristic neurological symptoms, the younger patient has Addison disease and primary hypothyroidism attributable to autoimmune thyroiditis, and the older one has Graves disease. Both patients have loss of body hair and sparse scalp hair, which have not been reported previously in women heterozygous for adrenoleukodystrophy. After the institution of glucocorticoid replacement therapy, the younger sister, who has adrenal insufficiency, has shown unexpected neurological improvement. © 1992 Wiley‐Liss, Inc.
Membranoproliferative glomerulonephritis in a child with Prader‐Willi syndrome
Authors: Robson Wm. Lane M. , Leung Alexander K. C.
Published: June 2005

We describe a girl with Prader‐Willi syndrome and membranoproliferative glomerulonephritis. She had a deletion at 15q11‐13. The deletion may have made the child susceptible to renal disease. © 1992 Wiley‐Liss, Inc.
Tyrosinase gene mutations in type I (tyrosinase‐deficient) oculocutaneous albinism define two clusters of missense substitutions
Authors: Tripathi Ram K. , Strunk Kathleen M. , Giebel Lutz B. , Weleber Richard G. , Spritz Richard A.
Published: June 2005

Type I (tyrosinase‐deficient) oculocutaneous albinism (OCA) results from mutations of the gene encoding tyrosinase, the enzyme that catalyzes the first 2 steps of melanin pigment biosynthesis. In type IA (tyrosinase‐negative) OCA tyrosinase enzymatic activity is completely absent, and in type IB (“yellow”) OCA tyrosinase activity is greatly reduced. Here, we describe 11 novel mutations of the tyrosinase gene in Caucasian patients with these 2 forms of type I OCA. Type I OCA in Caucasians appears to result from a great variety of different uncommon alleles. More than 80% of the known missense substitutions associated with type I OCA cluster within 2 relatively small regions of the tyrosinase polypeptide, suggesting that these may correspond to functionally important sites within the enzyme. © 1992 Wiley‐Liss, Inc.
Hypoglossia‐hypodactylia syndrome with jejunal atresia in an infant of a diabetic mother
Authors: David Albert , Rozé Jean‐Christophe , Rémond Sabine , Branger Bernard , Héloury Yves
Published: June 2005

Despite advances in therapy for maternal diabetes, pregnancies of diabetic women remained at an increased risk of spontaneous abortion or delivery of an infant with major malformation. We report on an infant of a diabetic mother with hypoglossia‐hypodactylia associated with complete jejunal atresia. A common pathogenesis for these 2 malformations could be a vascular disruptive mechanism with in utero arterial thrombosis. © 1992 Wiley‐Liss, Inc.
Lacrimo‐Auriculo‐Dento‐Digital syndrome: Evidence for lower limb involvement and severe congenital renal anomalies
Authors: Bamforth J. Stephen , Kaurah Pardeep
Published: June 2005

We describe a 3‐generation family with lacrimo‐auriculo‐dento‐digital syndrome (LADD). In addition to the well described abnormalities of ears, teeth, lacrimal apparatus and digits, the patients exhibit several previously undescribed anomalies, including minor facial anomalies (broad forehead, telecanthus, bulbous nasal tip, full jaw, ptosis and flared nostrils), involvement of the first and second toes, and congenital renal disease causing death in the neonatal period in 2 cases. © 1992 Wiley‐Liss, Inc.
Overlap between Majewski and Hydrolethalus syndromes: A report of two cases
Authors: Sharma Anita K. , Phadke Shubha , Chandra Kartika , Upreti Mamta , Khan E. M. , Naveed M. , Agarwal S. S.
Published: June 2005

We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib‐polydactyly syndrome, type Majewski.

It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib‐polydactyly syndromes. © 1992 Wiley‐Liss, Inc.
King syndrome: A genetically heterogenous phenotype due to congenital myopathies
Authors: Chitayat David , Hodgkinson Kathy A. , Ginsburg Ophira , Dimmick James , Watters Gordon V.
Published: June 2005

We report on a patient with myopathy, kyphoscoliosis, joint contractures, and a facial appearance consistent with King syndrome. Unlike other reported cases, our patient had hyperextensible joints, normal stature, and pectus excavatum. The cardiac ventricles, aorta, and pulmonary artery were dilated. Malignant hyperthermia did not occur under anaesthesia although there was a transient increase in CK levels. Muscle bulk and tone were significantly decreased but collagen and elastin fibres were normal. The variable clinical presentation of King syndrome suggests that the manifestations are caused by different congenital myopathies and in all cases there is probably an increased risk of malignant hyperthermia. © 1992 Wiley‐Liss, Inc.
Branchio‐Oto‐Renal syndrome: Further delineation of an underdiagnosed syndrome
Authors: Chitayat David , Hodgkinson Kathy A. , Chen Moy‐Fong , Haber George D. , Nakishima Shigeto , Sando Isamu
Published: June 2005

We report on a woman who was diagnosed with branchio‐oto‐renal (BOR) syndrome after 2 pregnancies complicated by oligohydramnios due to renal hypoplasia and agenesis. Both babies died neonatally of pulmonary hypoplasia. Histopathology of the temporal bones of the second child showed marked immaturity of the middle ear cleft, ossicles, facial nerve and canal, and cochlear nerve. Maternal renal ultrasound study was normal although intravenous pyelography indicated renal hypoplasia. The frequency of BOR syndrome among cases of recurrent fetal renal hypoplasia/dysplasia or agenesis is unknown, and parental renal ultrasonography may not identify a heritable renal defect. Investigations should include a family history, and examination of relatives to look for preauricular pits, lacrimal duct stenosis, and branchial fistulae and/or cysts. Hearing studies and IVP may be indicated. © 1992 Wiley‐Liss, Inc.
Risk of hepatoblastoma in familial adenomatous polyposis
Authors: Hughes Linda J. , Michels Virginia V.
Published: June 2005

Infantile and childhood hepatoblastoma occurs more frequently in persons heterozygous for the familial adenomatous polyposis (FAP) gene than in the general population. This observation is based on numerous case reports plus the results of an international survey of FAP registries. However, the frequency of this rare tumor in FAP patients is unknown. In a retrospective review of our family history data, 2/470 (0.42%) children born to 241 patients with FAP had hepatoblastoma. This figure is significantly higher than the 1/100,000 incidence of hepatoblastoma in the general population. However, for genetic counseling purposes, an empiric risk of <1% for hepatoblastoma can be cited to persons with FAP for their children. © 1992 Wiley‐Liss, Inc.
Detection of the heteromorphic spectrum of heterochromatin in the human genome by in situ digestion using restriction endonuclease Alui
Authors: Luke Sunny , Verma Ram S.
Published: June 2005

A battery of selective banding techniques has been utilized to identify the heteromorphic markers in the human genome. The recent addition of the AluI/Giemsa (G)‐technique has helped not only in identifying the variable sites, but in characterizing their heteromorphic spectra. In the present investigation, we classified the pericentromeric heterochromatin by the AluI/G‐technique by its size and position using 50 normal individuals and suggested the potential uses of this banding technique over earlier methods. © 1992 Wiley‐Liss, Inc.
Tightly linked polymorphic markers for fragile X syndrome and prenatal cytogenetic diagnostic experience
Authors: Glass IA , Mastro RG Del , Lanyon WG , Raeburn JA , Kilpatrick MW , Webb Tp , Connor JM
Published: June 2005

Linkage analysis using the polymorphic loci DXS369, DXS296, DXS297 and DXS306 was carried out on a cohort of 17 families segregating for fragile X syndrome. The observed recombination fractions at: DXS369 (Zmax = 3. 02; theta=0. 06), DXS297 (Zmax= 2. 92; theta = 0.0), DXS296 (Zmax = 3. 82; theta = 0.0), DXA306 (Zmax = 4. 55; theta = 0.05) confirm that these loci are tightly linked to FRAXA. Our experience in the cytogenetic analysis of 58 at risk pregnancies by chorionic villus or fetal blood sample examination documents a false negative rate in obligate carrier male pregnancies for CVS of 11% and for FBS of 3%.
Delayed replication of Xq27 in individuals with the fragile X syndrome
Authors: Webb Tessa
Published: June 2005

The timing of late replicating bands on the X chromosome has been studied in individuals with the fragile X [fra (X)] syndrome. Compared to controls both affected individuals and symptomless carriers of the syndrome show delayed replication of the Xq27 region as shown by 2 different methods. The implications of this finding are discussed in relation to the proposal [Laird et al., 1987] that the fraX syndrome is associated with a failure to reactivate the Xq27 band correctly after it has been inactivated in a female.
Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community
Authors: Jaber Lutfi , Merlob Paul , Bu Xiangdong , Rotter Jerome I. , Shohat Mordechai
Published: June 2005

It is common among Israeli Arabs who live in the villages to prefer consanguineous marriages, particularly among first cousins. In addition, such villages are populated by a few (< 20) original families, and inter‐family/inter‐village marriages are infrequent. The purpose of this study was to examine the consequences of such “consanguinity” in Taibe, a large Arab village, 30 km from Tel Aviv. Six hundred ten families were prospectively ascertained through infants who were routinely seen in the local “Well Baby Clinics.” A significant increase in the incidence of major malformations was noted in relation to the closeness of the parental relationship. For the index cases group the prevalence of individuals with major malformations were 5.8% in the product of inter‐village marriages, 8.3% in the intra‐village non‐related matings, 15.1% in the distant consanguineous group, and up to 15.8% in the progeny of first‐cousin marriages (P < 0.001). In the siblings of these index cases, the frequency of major malformations was 4.3%, 4.5%, 10.5%, and 10.3%, respectively. Analysis of the major malformations by each body system showed the same trend. The study demonstrates a marked high rate of consanguineous marriages, whose effect leads to a marked increase in major malformations and thus a prominent public health problem in such villages. This requires a unique genetic counseling approach. © 1992 Wiley‐Liss, Inc.
Double mosaic aneuploidy: 45, X/47,XY,+8 in a male infant
Authors: Schofield B. , Babu A. , Punales‐Morejon D. , Popescu S. , Leiter E. , Franklin B. , Penchaszadeh V. B.
Published: June 2005

We report on a 13‐month‐old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial peno‐scrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY,+8. The karyotype of cultured skin fibroblasts was 47,XY,+8 with no 45,X cells detected among 20 cells counted. Tissues removed during surgery documented a 45,X/47,XY,+8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY,+8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage. © 1992 Wiley‐Liss, Inc.
Ullrich‐turner syndrome with unilateral agenesis of breast, nipple, and pectoralis major
Authors: Cohen Amnon , Lavagetto Antonella , Romano Cesare
Published: June 2005

A 16‐year‐old girl with mosaic Ullrich‐Turner syndrome [45,X/46,X,i(Xq)] had agenesis of the left breast, nipple, pectoralis major, and agenesis of hair follicles of the left axilla. This appears to be the first description of this anomaly in the Ullrich‐Turner syndrome. © 1992 Wiley‐Liss, Inc.
Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: A new syndrome?
Authors: Hardikar W. , Smith A. L. , Keith C. G. , Chow C. W.
Published: June 2005

A number of systemic abnormalities associated with cholestasis have been reported in the literature. This paper describes two unrelated patients with cholestasis and an unusual constellation of abnormalities including cleft palate/lip, hydronephrosis/hydroureter, retinal pigmentation, and intestinal septum. © 1992 Wiley‐Liss, Inc.
7p Deletion syndrome: An adult with mild manifestations
Authors: Grebe Theresa A. , Stevens Mark A. , Byrne‐Essif Karen , Cassidy Suzanne B.
Published: June 2005

Deletion of 7p results in a wide spectrum of congenital abnormalities and minor facial and hand anomalies, often including crani‐osynostosis. We report on the oldest recognized patient with this disorder, a 24‐year‐old woman with an interstitial deletion from p15.3‐p21.2 or p21.3. The manifestations in this patient are milder than those of previously described patients, and include borderline mental retardation, short stature, minor facial anomalies, and several skeletal changes. The absence of craniosynostosis in this patient is noteworthy, given previous suggestions that there is a specific locus for this finding in the 7p region. Twelve cases of 7p deletion, in which the missing segment overlaps that of the current case, are reviewed. This case delineates a broader spectrum for patients with 7p deletion syndrome. © 1992 Wiley‐Liss, Inc.
Unbalanced translocation 46,xy,−15,+der(22)t(15;22)(q13;q11)pat: Case report and review of the literature
Authors: Van Hove Johan L. K. , McConkie‐Rosell Allyn , Chen Yuan‐Tsong , Iafolla A. Kimberly , Lanman Joseph T. , Hennessy Mark D. , Kahler Stephen G.
Published: June 2005

We present a boy with a rare unbalanced translocation 46,XY,−15,+der(22),t(15;22)(q13;q11) pat. Previous reports of similar chromosome findings mention only the Prader‐Willi phenotype. At birth, his manifestations included severe hypotonia and lethargy, (typical of deletion of 15pter→q13); hypertelorism, down‐slanting small palpebral fissures, preauricular tags, long philtrum (typical of duplication of 22pter→q11); severe laryngotracheo‐malacia, and proximal implantation of the thumb. In a review of the literature on chromosome abnormalities involving duplication of 22q11 the associated clinical phenotype consists of mild mental retardation, microcephaly, hypotonia, hypertelorism, down‐slanting palpebral fissures, a long philtrum, cleft or highly arched palate, and ear abnormalities. Preauricular pits or tags are common. Cardiovascular defects, renal and genital problems and dislocated hips are frequently present. Anal atresia and colobomata are mainly seen in cat‐eye syndrome, the phenotype associated with idic 22q11. Our findings indicate that patients with unbalanced t(15;22) can have manifestations of the dup 22q11, in addition to the previously reported Prader‐Willi phenotype, even if the duplicated segment is small. © 1992 Wiley‐Liss, Inc.
Unusual short rib‐polydactyly syndrome
Authors: Tsai Yung‐Chieh , Chang Jye‐Min , Changchien Chan‐Chao , Eng Hock‐Liew , Chen Wei‐Jen , Lui Chun‐Chung , Huang Churng‐Bin
Published: June 2005

We present a case of lethal short rib‐polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS. © 1992 Wiley‐Liss, Inc.
Glaucoma‐lens ectopia‐microspherophakia‐stiffness‐shortness (GEMSS) syndrome: A dominant disease with manifestations of Weill‐Marchesani syndromes
Authors: Verloes Alain , Hermia Jean‐Paul , Galand Albert , Koulischer Lucien , Dodinval Pol
Published: June 2005

We report on a syndrome of progressive joint stiffness, glaucoma, and lens dislocation observed in three generations and compare it with two previous records of short stature, lens ectopia, and articular limitation. This family confirms the existence of a dominant Weill‐Marchesani‐like syndrome. We suggest that it could be related to the Moore‐Federman syndrome. We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspher‐ophakia, Stiff joints, Short stature) to distinguish this dominant Weill‐Marchesani‐like syndrome from the classic, recessively inherited syndrome. © 1992 Wiley‐Liss, Inc.
Xp22.3 Microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects
Authors: Lindor Noralane M. , Michels Virginia V. , Hoppe Daniel A. , Driscoll David J. , Leavitt Jacqueline A. , Dewald Gordon W.
Published: June 2005

We report on an infant girl with congenital erythematous, linear skin lesions on face and neck, bilateral microphthalmia, sclerocornea, cataracts, and a complex cardiac anomaly including atrial septal and ventricular septal defects. This patient had an Xp22.3 microdeletion and a chromosome satellite on the abnormal X p‐arm. The abnormal X chromosome was late replicating in peripheral blood lymphocytes and cultured skin fibroblasts. Four other patients with similar congenital anomalies and Xp deficiency have been reported previously and are compared with this patient. One patient had an interstitial or terminal deletion, but in others the material translocated to Xp22.3 was variable (Yq material in two patients, and Yp material and an unidentifiable satellite in one patient each). Several mechanisms are suggested by which this chromosome abnormality might produce this phenotype in these patients. Our patient is the first with this syndrome to have a congenital heart defect. © 1992 Wiley‐Liss, Inc.
Assessment of body composition in the prader‐willi syndrome using bioelectrical impedance
Authors: Davies Peter S. W. , Joughin C.
Published: June 2005

The accurate assessment of body composition is of importance in the Prader‐Willi syndrome. Many techniques are not applicable due to ethical or practical reasons. However, the bioelectrical impedance technique is a rapid, painless, noninvasive method of estimating total body water and hence, fat‐free mass in obese children and adolescents.

We have compared estimates of total body water derived from bioelectrical impedance with actual measurements taken, using H218O dilution, in 14 children with Prader‐Willi syndrome.

Existing equations for predicting total body water from impedance showed a bias to underestimate actual measures of body water. There were positive correlations between the degree of underestimation with age and body fatness.

It is possible that changes in body shapes influence bioelectrical impedance measurements in obese individuals, and that a prediction equation based upon a normal population will not be applicable to obese individuals. © 1992 Wiley‐Liss, Inc.
Beare‐Stevenson cutis gyrata syndrome
Authors: Hall Bryan D. , Cadle Ronald G. , Golabi Mahin , Morris Colleen A. , Cohen M. Michael
Published: June 2005

Beare‐Stevenson cutis gyrata syndrome consists of skin furrows of corrugated appearance, acanthosis nigricans, craniotacial anomalies, particularly craniosynostosis and ear defects, anogenital anomalies, skin tags, and prominent umbilical stump. Four cases of this striking syndrome are reported. Together with two previously reported cases, the syndrome is delineated from the six known cases. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. Craniosynostosis is present in four cases, with cloverleaf skull in three of these. Intrauterine growth has been normal in all cases. Performance and life expectation appear to be related to the presence or absence of cloverleaf skull. All cases observed to date have been sporadic. Increased paternal age suggests the possibility of an autosomal dominant mutation. © 1992 Wiley‐Liss, Inc.
DNA‐Testing for Huntington's disease in The Netherlands: A retrospective study on psychosocial effects
Authors: Tibben Aad , Vlis Maria Vegter‐Van Der , Skraastad Mette I. , Frets Petra G. , Van Der Kamp Jacques J. P. , Niermeijer Martinus F. , Van Ommen Gert‐Jan B. , Roos Raymund A. C. , Rooijmans Harry G. M. , Stronks Dick , Verhage Frans
Published: June 2005

Presymptomatic DNA‐testing for Huntington's disease has made it possible to predict whether or not at‐risk individuals are gene‐carriers with a reliability of about 98%.

In our retrospective study of 18 tested individuals, most of the newly identified carriers function apparently well. They use avoidance and repression of affect as psychological defense strategies. However, 8 out of 9 non‐carriers do not experience the expected relief about their test results. They experience survivor guilt and emotional numbness and find it difficult to cope with the effects of the test results on the family system. The partners of gene‐carriers are at risk of becoming emotionally isolated by putting aside their own feelings for fear of seeming self‐centered. Appreciation of these effects on tested individuals is important and professional support is needed to prevent post‐traumatic stress disorders. Whatever the test result may be, the working through process may take years rather than months. These findings have important implications for patient care and necessitate an extended period of observation after presymptomatic testing. © 1992 Wiley‐Liss, Inc.
Reproductive decision making of aunts and uncles of a child with cystic fibrosis: Genetic risk perception and attitudes toward carrier identification and prenatal diagnosis
Authors: Denayer L. , Evers‐Kiebooms G. , De Boeck K. , Berghe H. Van Den
Published: June 2005

This paper evaluates the perceived genetic risk, the perceived burden, the impact on reproductive decision making, and the attitudes of aunts and uncles of a child with cystic fibrosis toward carrier identification, prenatal diagnosis, and pregnancy termination. A mailed questionnaire was sent to the aunts and uncles of 32 CF children (1) who attended the Paediatric Department of the University Hospital and (2) whose parents agreed to give the names and addresses of their sibs. The results for the 109 respondents aged less than 40 years are discussed. About one‐fourth of them was aware of the “approximate” level of the risk to be a carrier of the CF gene and/or of the risk of having a CF child themselves. Nevertheless the subjective evaluation of the genetic risk has played a part in the reproductive decision‐making process of at least 39% of the respondents. About three‐fourths would (probably) make use of heterzygote detection and would (probably) ask for prenatal diagnosis should they become pregnant. It is striking that less than half of the group would interrupt the pregnancy should the fetus be affected. The intention to use prenatal diagnosis was significantly correlated with age and educational level while the acceptance of pregnancy interruption was significantly correlated with perceived burden, respondents' age, and health situation of the proband. © 1992 Wiley‐Liss, Inc.
Cytogenetic and molecular analysis in Angelman syndrome
Authors: Zackowski J. L. , Nicholls R. D. , Gray B. A. , Bent‐Williams A. , Gottlieb W. , Harris P. J. , Waters M. F. , Driscoll D. J. , Zori R. T. , Williams C. A.
Published: June 2005

We report on cytogenetic and molecular analysis of 29 Angelman syndrome (AS) individuals ascertained in 1990 through the first National Angelman Syndrome Conference. High resolution GTG‐ and GBG‐banded chromosomes were studied. Standard molecular analysis with six 15q11q13 DNA sequences was used to analyze copy number and parental origin of 15q11q13. Concordance between molecular and cytogenetic data was excellent. The combind data showed that 23 of the 27 probands (85%) on whom we had definitive results have deletions of the chromosome 15q11q13 region. Two classes of deletion were detected molecularly: most patients were deleted for the 5 more proximal probes, but in 2 cases the deletion extended distally to include in sixth probe. In the 13 cases where the parental origin of the deleted chromosome 15 could be established, it was maternal. There were no cases of uniparental disomy. Cytological observations of the relative sizes of the heterochromatic regions of the short arm of chromosome 15 suggested that chromosomes with large heterochromatic blocks may be more prone to de novo deletion. © 1993 Wiley‐Liss, Inc.
Angelman and Prader‐Willi syndrome: A magnetic resonance imaging study of differences in cerebral structure
Authors: Leonard Christiana M. , Williams Charles A. , Nicholls Robert D. , Agee O. Frank , Voeller Kytja K. S. , Honeyman Janice C. , Staab Edward V.
Published: June 2005

Recent improvements in magnetic resonance imaging techniques now allow the developing brain to be visualized in sufficient detail to perform “in vivo neuropathology.” In this study we compared the cortical morphology in six children with Angelman and four with Prader‐Willi syndrome. These two syndromes are of especial interest because, although they are both caused by deletions in the same region of chromosome 15, Angelman children are far more severely affected, and do not speak. We measured the length of the banks of the Sylvian fissure in a gapless series of thin sagittal images. Angelman children had a significantly larger proportion (75%) of anomalous fissures than the Prader‐Willi children (12%). Anomalous cortical growth could result from mistimed expression and recognition of macromolecules involved in axonal guidance, target recognition, and pruning. We hypothesize that misrouting of long projection axons may be related to the Sylvian fissure anomalies and the language disorder in Angelman syndrome. © 1993 Wiley‐Liss, Inc.
Communication, cognition, and social interaction in the Angelman syndrome
Authors: Penner Kandace A. , Johnston Joy , Faircloth Barbara H. , Irish Patricia , Williams Charles A.
Published: June 2005

Persons with Angelman syndrome (AS) have mental retardation epilepsy, and a characteristic “puppet‐like” gait. Behaviorally, they are distinctive because they have no speech and have excessive laughter. A speech and communication evaluation of 7 persons with AS was performed to provide improved understanding of the speech deficit. Assessments included prelanguage and language development, oral motor abilities, and cognitive and social interaction skills. Results indicate that the typical lack of speech may not be due to mental retardation alone. Oral motor dyspraxia, and deficits in social interaction and attention were characteristic of AS and contributed to the lack of speech. © 1993 Wiley‐Liss, Inc.
Trisomy 22 and facioauriculovertebral (Goldenhar) sequence
Authors: Kobrynski Lisa , Chitayat David , Zahed Laila , McGregor David , Rochon Louise , Brownstein Seymour , Vekemans Michael , Albert Darren L.
Published: June 2005

We report on an infant girl born with complete trisomy 22 and left hemifacial microsomia, ear anomaly and limbal and epibulbar complex choristoma. Trisomy 22 was confirmed by prometaphase chromosome analysis and in situ hybridization. This patient extends the list of chromosome abnormalities associated with apparent Goldenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition. A detailed ophthalmopathological investigation is reported. © 1993 Wiley‐Liss, Inc.
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics
Authors: Wyandt Herman E. , Milunsky Jeffrey , Lerner Terry , Gusella James F. , Hou Alexander , MacDonald Marcy , Adekunle Soloman , Milunsky Aubrey
Published: June 2005

An infant with multiple anomalies including small head, Large apparently low‐set ears, beaked nose, micrognathia, choanal stenosis, proptosis, atrial‐septal defect, and left inguinal hernia was found, on chromosome analysis, to have a longer than normal terminal band 4p16 by G and R‐banding. In situ hybridization of biotin‐labeled DNA probes C39, BJ14, BJ54, BJ19, BJ7, and BJ11 showed them to be duplicated. Probes I14, A157.1, and the telomeric sequence, (TTAGGG)n, which hybridized to the more distal part of 4p16.3, were not duplicated. These result confirm the impression by G and R‐banding of a duplication within band 4p16, a region extending from approximately 2.1 Mb from the telomere, proximally, to the junction of 4p16.1 and 4p15.3. This is the smallest confirmed duplication of distal 4p reported to date, with many of the classical findings of dup(4p) syndrome. © 1993 Wiley‐Liss, Inc.
Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization
Authors: Bernstein Renee , Bocian Maureen E. , Cain Mary J. , Bengtsson Ulla , Wasmuth John J.
Published: June 2005

Fluorescent in situ hybridization (FISH) identified a cryptic balanced reciprocal translocation in the mother of an infant with the cri‐du‐chat syndrome. A biotinylated probe from a flow‐sorted chromosome 5 cosmid library was used to show the distal deletion of 5p15.2 in the propositus and a translocation of this segment to the distal end of 7 at 7p21 in his mother. In a subsequent pregnancy, the fetus was shown to have normal chromosomes using the same 5 cosmid library probe and a locus‐specific probe derived from the 5p15.3 region. The importance of incorporating FISH into the routine diagnostic laboratory is discussed. © 1993 Wiley‐Liss, Inc.
Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3→q31.3)
Authors: Jeziorowska Anna , Ciesla Wlodzimierz , Houck George E. , Yao Xiu‐Lan , Harris Marsha S. , Truszczak Barbara , Skorski Maria , Jakubowski Lucjusz , Jenkins Edmund C. , Kaluzewski Bogdan
Published: June 2005

We report on a 3‐year‐old boy with moderate developmental retardation, microcephaly, and malformations of ears, lids, mouth, and thumbs. Cytogenetic analysis demonstrated a direct duplication of chromosome subregion 4(q21.3→q31.3). Confirmation of this specific rearrangement was performed by fluorescent in situ hybridization (FISH) with a chromosome painting probe and by means of quantitative Southern hybridization with DNA probes localized within the chromosome 4 region presumed to be duplicated. © 1993 Wiley‐Liss, Inc.
Trisomy 22 confirmed by fluorescent in situ hybridization
Authors: Stratton Robert F. , DuPont Barbara R. , Mattern Vicki L. , Young Robert S. , McCourt James W. , Moore Charleen M.
Published: June 2005

We report on a newborn girl with multiple congenital anomalies, whose G‐banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole‐chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation. © 1993 Wiley‐Liss, Inc.
Co‐occurrence of schizophrenia and Treacher Collins syndrome
Authors: Nimgaonkar V. L. , Scott J. A. , Brar J. S. , Ganguli R. , Chakravarti A.
Published: June 2005

This is the first report of an individual with several congenital abnormalities, including those suggestive of Treacher Collins syndrome, and an atypical schizophrenic illness. Cytogenetic studies have failed to detect any recognizable chromosomal abnormality. © 1993 Wiley‐Liss, Inc.
Male siblings with schizophrenia share alleles at the androgen receptor above chance expectation
Authors: Crow T. J. , Poulter M. , Lofthouse R. , Chen G. , Shah T. , Bass N. , Morganti C. , Vita A. , Smith C. , Boccio‐Smith A. , Shields G. , Delisis L. E.
Published: June 2005

In families that included two or more siblings with schizophrenia or schizo‐affective disorder male‐male pairs were found to share alleles at the androgen receptor (AR) gene (in Xq11.2‐q12) above chance expectation (p < 0.003); female‐female and mixed sex pairs showed no such tendency. The findings are compatible with X‐Y linkage or with an X‐linked contribution to liability in males. © 1993 Wiley‐Liss, Inc.