Search PubMed⌕ Search

Biomedical subjects

D D Weaver

Publications and source records attributed to D D Weaver.

At least 37 records · Page 2Linked to original sources
PubMed1995

Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia.

We describe a patient with an asymmetric double ring 21 in mosaic form, 45,XX, -21/46, XX, -21, +r(21), who has limited manifestations of Down syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), FAB M7, a hematologic disorder particularly common in Down syndrome patients. In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) probably was formed postzygotically. Included in the duplicated segment are the candidate genes for leukemia AML-1, ETS, and ERG. The potential significance of disomic homozygosity of loci on 21q in M7 megakaryocytic leukemia is discussed.

Chromosome Mapping↗
PubMed1995

Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.

A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf-Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf-Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,-4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great-uncle who also had a similar phenotype and profound mental retardation. Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39-year-old great-uncle is the oldest reported individual with the Wolf-Hirschhorn syndrome. The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized.

Abnormalities, Multiple↗
PubMed1994

Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype.

We report on an infant who presented at birth with some characteristics of trisomy 18 syndrome, including low birth weight, facial abnormalities, overlapping fingers, and congenital heart defects. On chromosome analysis, no additional chromosome 18 was observed and both chromosome 18 homologues appeared normal. However, a small piece of chromosomal material of unknown origin was detected at the tip of the long arm of chromosome 1. Fluorescence in situ hybridization (FISH) using whole chromosome 18 painting probes disclosed no additional hybridization at the telomere of 1q, suggesting that the material was derived from another chromosome. Further chromosome painting experiments suggested that the telomeric addition was of chromosome 1 origin. To identify subchromosomal regions involved in the rearrangement, additional FISH analyses were performed using single copy and repetitive DNA probes mapping to different portions of chromosome 1. The analyses showed that probes mapping to 1q34-43 were duplicated in the derivative chromosome 1. In addition, a DNA probe mapping to 1q44 was found to be deleted from the derivative chromosome 1. Our composite analysis suggests that a deletion and a duplication of chromosome 1q can result in some of the clinical findings usually associated with trisomy 18 syndrome. These results demonstrate the usefulness of FISH analysis when karyotype analysis is not consistent with the clinical description.

Abnormalities, Multiple↗
PubMed1994

Branchio-oculo-facial syndrome: broadening the spectrum.

We present 3 individuals, a mother, her son, and an unrelated child, with a number of manifestations reported in the branchio-oculo-facial syndrome (BOFS). The former 2 individuals lacked the ocular and branchial abnormalities normally encountered in this syndrome. However, unilateral renal agenesis was present in the first child, a defect infrequently found in the BOF syndrome. Both the mother and her son also had bilateral supra-auricular sinuses. These defects may represent persistence of the otic vesicle sinus tract. The second child has a mild expression of this condition, among the mildest reported in the literature. The BOFS appears to represent a spectrum involving the development of the optic vesicles, branchial arches, eyes, face, lips, and kidneys. The variations seen in this disorder and the overlap between this condition and the branchio-oto-renal syndrome may represent different mutations within a single gene or may be a contiguous gene deletion syndrome.

Abnormalities, Multiple↗
PubMed1993

Asymmetric and symmetric long bone bowing in two sibs: an apparently new bone dysplasia.

We describe 2 sibs, one with congenital asymmetric long bone bowing and one with congenital symmetric long bone bowing. Other bony abnormalities in these sibs include beaten metal appearance of the skull, dolichomacrocephaly, ocular hypertelorism, and anterior beaking and bone-within-bone appearance of vertebrae. A differential diagnosis including campomelic dysplasia, kyphomelic dysplasia, hypophosphatasia, Grant syndrome, and osteogenesis imperfecta, and a discussion of potential mechanisms of long bone bowing are presented. The condition that these sibs have shares some characteristics of the above bone disorders, but appears to be a separate entity which to our knowledge has not been described previously.

Arm↗
PubMed1993

Otopalatodigital syndrome type II associated with omphalocele: report of three cases.

We present 3 patients with otopalatodigital (OPD) syndrome type II and omphalocele; 2 of the cases are brothers. There are now 6 known cases of OPD type I or II with omphalocele. We propose that this combination is not coincidental and discuss mechanisms that may result in the combination of OPD, omphalocele, and other midline defects.

Abnormalities, Multiple↗
PubMed1991

Weaver syndrome: a case without early overgrowth and review of the literature.

A female child with Weaver syndrome is described. She did not show the excessive growth characteristic of this syndrome until after adequate caloric intake was achieved by feeding through a gastric feeding tube. Her inadequate nutrition was a result of feeding difficulties during infancy. In addition, she had recurrent pulmonary infections, apneic spells, and severe developmental delay. She died at 16 months of sepsis, congestive heart failure, and respiratory arrest. The autopsy revealed marked atrophy of the brain and cardiac ventricular hypertrophy. Most of the brain changes were thought to be from hypoxia.

Congenital Abnormalities↗
PubMed1990

Bone dysplasias: the prenatal diagnostic challenge.

The prenatal diagnosis of bone dysplasias presents difficult challenges for the clinician involved in monitoring pregnancies. Such diagnoses highlight delicate ethical issues and may require difficult decision-making when the differential diagnosis includes a lethal bone dysplasia. Despite the rapid technological advances in ultrasonography, the ability to make prenatal diagnoses within this group of disorders is limited by the restricted ultrasonographic capability to appreciate fully the detailed fetal anatomy. However, we perceive that a significant further limitation involves the lack of a systematic protocol to guide the clinician in the ultrasonographic evaluation of a fetus suspected of having a skeletal dysplasia. In an attempt to aid the clinician who is evaluating these suspected pregnancies, we report here 8 cases and propose a model protocol for the ultrasonographic diagnostic approach to fetal skeletal problems in utero.

Adolescent↗
PubMed1990

Fetal brain disruption sequence.

The fetal brain disruption sequence is a recognizable pattern of defects that includes moderate to profound microcephaly, overlapping sutures, occipital bone prominence, and scalp rugae. The condition is postulated to arise from partial brain disruption during the second or third trimester with subsequent fetal skull collapse resulting from decreased intracranial hydrostatic pressure. Proposed causes include prenatal viral or parasitic infections and vascular disruptions. We report seven infants with the fetal brain disruption sequence. Two of these patients died. A changing phenotype with time was seen in three. Recognition of this phenotype is critical because the condition has a uniformly poor prognosis for infants but the recurrence risk in future pregnancies is low.

Abnormalities, Multiple↗
PubMed1990

Unilateral duplication of the cerebellar hemisphere and internal, middle, and external ear: a clinical case study.

This article presents the unique congenital anomaly complex of ipsilateral cerebellar hemisphere duplication and internal, middle, and external ear duplication. Diagnostic techniques included a head CT scan, a three-dimensional head CT scan, and a head MRI. An aberrant notochordal split was proposed as the embryologic mechanism leading to the development of such anomalies.

Abnormalities, Multiple↗
PubMed1990

A morphometric analysis of the fetal craniofacies by ultrasound: fetal cephalometry.

We present here a set of 24 standardized linear measurements that describe the growth of different craniofacial structures in the normal fetus from 16 to 36 weeks of gestation. These measurements were taken from 89 pregnant women, who had from 1 to 3 ultrasonographic evaluations during the pregnancy (16, 26, and 36 weeks of gestation). All the values presented here were obtained using the technique described by Escobar et al. The mean and standard deviation was calculated for each measurement and was used to estimate the normal growth pattern of each variable. Approximate confidence intervals for the mean of each variable were constructed for use in identifying unusually low or high values. The confidence intervals are available in graphic form by request. These data will not only contribute to an understanding of fetal craniofacial growth and development in utero, but in addition, it will help to make the diagnoses of mild craniofacial anomalies that would not be detected by the routine ultrasonographic examination. We suggest that this procedure should be included if not in all routine obstetrical ultrasound evaluations, then at least in the more extensive level II obstetrical ultrasound.

Cephalometry↗
PubMed1989

Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism.

We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q- syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.

Abnormalities, Multiple↗
PubMed1989

Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II?

We report on 5 relatives in 3 generations with an apparent new type of distal arthrogryposis. These individuals have manifestations of type I distal arthrogryposis, but in addition, have craniofacial anomalies that include facial asymmetry, hypertelorism, downslanting palpebral fissures, high nasal bridge, malar hypoplasia, micrognathia, highly arched palate, notched chin, and posteriorly angulated ears. Their intelligence is normal. Although these manifestations preclude us from placing this family in the type I (isolated) distal arthrogryposis category, we also are unable to place them in any of the recognized subtypes of type II distal arthrogryposis. Thus, we think this family may have a previously undescribed form of autosomal dominant type II distal arthrogryposis.

Abnormalities, Multiple↗