摘要:

AbstractWe report on 8 (3 male, 5 female) native Canadian children with distinctive facial appearance and variable combinations of ocular colobomas, hypertelorism, macrocephaly, hand anomalies, congenital heart defects, structural CNS posterior fossa malformations, and mental retardation. These 8 children belong to 7 families; 3 of the families are related. The parents and other sibs are clinically unaffected. We think these manifestations provide evidence for Ritscher‐Schinzel syndrome in native Canadian children, and we have confirmed that ocular colobomas are a common occurrence in this disorder. © 1995 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560402

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractWe report on the prenatal ultrasonographic diagnosis of Walker‐Warburg syndrome based on cerebral and ocular findings. The ultrasound study done at 37 weeks gestation documented hydrocephalus and retinal nonattachment consistent with this syndrome. The ability to detect retinal nonattachment prenatally may have implications for the prenatal diagnosis of other conditions which have early retinal nonattachment as one of their findings. However, it is uncertain how early in pregnancy this defect can be detected. © 1995 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560403

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractTrisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the literature are thought to represent the product of unbalanced 11;22 translocations or the result of undetected mosaicism, since this condition is thought to manifest early embryonic or fetal lethality. We present two strikingly similar cases of non‐mosaic trisomy 22 surviving to late gestation. In this paper we emphasize the unique phenotype of this trisomy which included intrauterine growth retardation, microcephaly, broad flat nasal bridge with epicanthal folds and ocular hypertelorism, microtia, variable cleft palate, webbed neck, congenital heart defects involving anomalous great vessels, anorectal and renal anomalies, and hypoplastic distal digits with thumb anomalies. We also explore why some cases survive to late gestation. Confined placental mosaicism, a frequent finding in other lethal trisomies, has been ruled out in one of the cases. Molecular studies done to assess the parental origin of the extra chromosome in the other case showed that the non‐disjunction originated during maternal meiosis II. Parental origin of the extra chromosome does not seem to play a role in late survival for trisomy 22. © 1995 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560404

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractWe conducted a follow‐up study on 15 patients with Wiedemann‐Beckwith syndrome (WBS) to further clarify major and minor diagnostic clinical characteristics and long‐term expectations for growth and development. We found patients with WBS tended to have polyhydramnios with large placentas which were almost twice normal placental weight. The large fetal size and polyhydramnios often resulted in early delivery with occasional perinatal mortality (three cases). Increased placental size, with associated polyhydramnios resulting in excessive umbilical cord length, may be useful in suspecting WBS prior to delivery, thereby facilitating perinatal management. The presence of abdominal wall defects and/or macroglossia may help to confirm the diagnosis. At birth, patients were almost 2 standard deviations above the expected mean for gestational age, length, and weight. This trend continued through early childhood and then excessive size became less dramatic with increasing age. We detected no cytogenetic variations in nine patients who had studies done and, to date, no tumors have been detected other than a gastric teratoma that was evident in one infant at birth. Longitudinally, the children have not had an unusual incidence of medical problems, and long‐term ultrasound monitoring was not burdensome to the families. In comparison, mental and social development to unaffected siblings and cousins appeared normal. © 1995 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560405

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractOpitz [BD: OAS XXIX(1): 3‐37, 1993] has postulated that during early blastogenesis the entire embryo represents a single morphogenetic unit, the primary field. During this period, beginning gastrulation, the most important events are the formation of the midline and the mesoderm. Consequently, one could expect that dysmorphogenetic reactions of the primary field are likely to disturb more than one of the essential events of blastogenesis, such as fusion, lateralization, decussation, segmentation, morphogenetic movements, asymmetry formation, etc.I have used the 20,891 liveborn malformed infants identified by the Spanish Collaborative Study of Congenital Malformations (ECEMC) to analyze the concept of the primary field defect (DFD). The malformed children were separated into 4,679 children with only midline defects, 1,592 children with midline plus other non‐midline anomalies, and 14,620 babies without midline defects. Sex, twinning, neonatal death, parental consanguinity, and other malformed first degree relatives in the family were analyzed in each group. Different defects were selected as indicators of specific morphogenetic events of blastogenesis. Cardiac and neural tube defect were selected as indicators of fusion anomalies; agenesis/hypoplasia of the corpus callosum were included as example of decussation defect; cyclopia as representation of the alteration of lateralization; vertebral defects as indicators of anomalies of segmentation; intestinal malrotation and omphalocele as representatives of the alteration of the morphogenetic movement; and, finally, infants with asplenia, polysplenia, dextrocardias, transposition of great vessels, visceral transposition, and situs inversus totalis were grouped to allow an analysis of alteration of the normal body asymmetry.The results of this analysis demonstrate, from an epidemiological standpoint, that the infants with midline anomalies have alteration of the normal body asymmetry more frequently than infants without midline defects. Children with midline anomalies have more severe malformations with high lethality, associated with twinning, without sex differences in occurrence, and with low recurrence risk, than do infants without midline defects, as was suggested by Opitz [BD: OAS XXIX(1): 3–37, 1993]. © 1995 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560406

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractLubinsky [Am J Med Genet 3: 23–28, 1987] has suggested that the properties of the midline involve early determinative informational processes and are related to the midline's position and definition of the body's plane of symmetry. Opitz [Am J Med Genet 21: 175‐176, 1985, BD: OAS XXIX(1): 3–37 1993]has pointed out that the laterality sequences represent a midline developmental field complex. Thus, bilateral left‐sidedness (with asplenia) and bilateral right‐sidedness (with polysplenia) have been considered laterality sequences or syndromes if cause is known.Using the malformed infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC), we performed a clinical/epidemiological analysis of the relationship between midline defects and alteration of normal bodyasymmetryandsymmetry.The results support the assumption that both conditions could be consequence of disturbances in the midline primary developmental field. © 1995 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560407

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractChromosome analysis was performed on a 3‐year‐old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. Fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the Y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism. © 1995 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560408

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractThe “PRimed IN Situ labeling” (PRINS) method is an interesting alternative to in situ hybridization for chromosomal detection. In this procedure, chromosome labeling is performed by in situ annealing of specific oligonucleotide primers, followed by primer elongation by a Taq polymerase in the presence of labeled nucleotides. Using this process, we have developed a simple and semi‐automatic method for rapid in situ detection of human chromosome 21. The reaction was performed on a programmable temperature cycler, with a chromosome 21 specific oligonucleotide primer. Different samples of normal and trisomic lymphocytes and amniotic fluid cells were used for testing the method.Specific labeling of chromosome 21 was obtained in both metaphases and inter‐phase nuclei in a 1 hour reaction. The use of oligonucleotide primer for in situ labeling overcomes the need for complex preparations of specific DNA probes. The present results demonstrate that PRINS may be a simple and reliable technique for rapidly detecting aneuploidies. © 1995 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560409

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractUnbalanced de novo rearrangements, difficult to characterize by conventional cytogenetic techniques, may be elucidated by molecular approaches. By dinucleotide repeat polymorphism typing and fluorescence in situ hybridization (FISH), we have denned the composition of an unbalanced de novo translocation (46,XX,15p+) in a child with multiple congenital anomalies. Use of a microsatellite repeat D5S208 (localized to 5pl5) and polymerase chain reaction (PCR) analysis confirmed that the extra segment originated from the short arm of chromosome 5. Amplification of the patient's DNA with primers for dinucleotide repeats D5S350 and D5S118 showed that the entire 5p (from Spter to 5q11) was present in 3 copies. FISH confirmed the trisomic status of 5p, and further revealed the presence of centromeres of both chromosomes 5 and 15 on the rearranged chromosome thus delineating its dicentric nature. This information allowed us to redefine the de novo rearrangement in this patient as 46,XX,dic der(15)t(5;15)(q11;p11). © 1995 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560410

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY

摘要:

AbstractWe present a patient with a chromosomal mosaicism involving the X chromosome. One cell line is 45,X and the other has a de novo paternally derived dicentric X;15 translocation. Her karyotype is therefore 45,X/45,X,dic(X;15)(Xpter→Xq26.1: : 15p11→15 qter) based on G‐banding. The presence of 2 centromeres on the derivative X was confirmed by fluorescence in situ hybridization (FISH) and a deletion of Xq26.1→qter was confirmed by polymerase chain reaction (PCR) using DXS52 and DXYS154. Replication banding studies indicate that the derivative X is late replicating. Based on these studies, it is unclear whether inactivation has spread to proximal 15q. The patient has a unique phenotype distinct from Ullrich‐Turner or Prader‐Willi syndromes, but includes ataxia and language delay which are commonly seen in Angelman syndrome. These findings are contrary to those anticipated since deficiency of paternal genes at 15q12 typically leads to Prader‐Willi syndrome. Molecular analysis of PCR‐based polymorphisms of chromosome 15 and X indicates that uniparental disomy is not present for the X chromosome or chromosome 15 in either cell line. It is hypothesized that her phenotype results from the interaction of the 2 abnormal genotypes. Each abnormality may be diluted by the mosaicism and, in the derivative X line, by the possible variation among cells of inactivation spreading to chromosome 15. © 1995

ISSN:0148-7299    

DOI:10.1002/ajmg.1320560411

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1995

数据来源: WILEY