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Results 301 - 350 of 367
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Cantu J M - - 1981
A 10-day-old girl affected with 22q12 leads to qter "pure" trisomy as a consequence of recombination within a maternal pericentric inversion (22)(p13q12) is described. A phenotypical comparative analysis reveals that the proposita's phenotype is strikingly similar to that of the trisomy 22 syndrome. Arylsulphatase-A activity was above normal levels and ...
Annerén G - - 1981
Two cases of trisomy 9 are described. Patient 1 is the fourth case of complete trisomy 9 to be reported, and the third reported to have been born alive. This patient showed an anomaly of the perineum, with a short distance between the anus and vulva, and the circular muscle ...
Chen H - - 1981
A stillborn male infant with mosaic trisomy 19 (46,XY/47,XY,+19) is reported. The prenatal ultrasound revealed polyhydramnios, edema of the fetal head and abdominal ascites. The clinical features of the proband include hydrops, epicanthal fold, hypertelorism, flat nasal bridge, short nose, small mouth, low-set and malformed ears, narrow meati, short neck ...
Rodewald A - - 1981
The combination of dermatoglyphic patterns and the number and intensity of traits characteristic for Down's syndrome can be statistically expressed by the "Walker" index and the "general" index. More than 96% of a Down's syndrome series and a control series could clearly be separated by the general index. Cytogenetic and ...
Lomo A - - 1980
A black American infant presented with typical findings of femoral hypoplasia--unusual facies syndrome, chromosome X trisomy in cultured lymphocytes, and a family history of mirognathia among first- and second-degree maternal relatives. It is postulated that micrognathia may lie at one end of the multigenic phenotypic spectrum which at its opposite ...
Leisti J - - 1980
Clinical findings on three closely related, severely malformed infants and a 20-week-old fetus with an identical partial trisomy of chromosome 1 (1q42 leads to ter) have made possible the delineation of a new syndrome. The typical manifestations of this syndrome are: severe intrauterine and postnatal developmental retardation, trigonocephaly with wide ...
Aftimos S F - - 1980
A patient with partial trisomy 9q due to material 9/17 translocation was studied and compared with four previously reported cases. The similarity of their clinical features allowed us to delineate a distinct clinical syndrome, which is characterized by psychomotor retardation, dolichocephaly, beaked nose, deep-seated eyes, and long fingers and toes. ...
Stephens T D - - 1980
A significant number of fetuses with the Down syndrome are spontaneously lost before birth; however, very few such fetuses have been described. In the present study, 13 fetuses of 127--180 mm in crown-rump length were examined following amniocentesis diagnosis of trisomy 21 and therapeutic abortion. Four features, i.e., simian crease, ...
Ginsberg J - - 1980
We studied the eyes of two children with proven trisomy 21 and updated the microscopic ocular findings. The ocular malformations, generally of a minor nature, comprise a variety of nonspecific hyperplasia or hamartomata, hypoplasias, tissue defects and heterotopias, and involve virtually every portion of the globe. Ocular and extraocular abnormalities ...
Uchida I A - - 1980
Detailed studies were carried out on a patient with a rare type of mosaicism which gave rise to an effective 21 trisomy. The clinical signs of Down syndrome were minimal. The cytogenetic interpretation is that the abnormal clone had an isochromosome derived from a maternal No. 21. The normal cell ...
Yunis E - - 1980
A patient with typical Potter's syndrome and full trisomy 7 is described. All previous reports on chromosome 7 abnormalities, whether monosomic or trisomic, p or q, are reviewed and discussed, establishing two 7q trisomy syndromes: 7q22 ts leads 7q31 and 7q22, q31 leads to 7qter. Some implications of the finding ...
Hori A - - 1980
Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within the cerebellar white matter. ...
Ray M - - 1980
We report a girl with partial trisomy-8 mosaicism whose clinical findings were those of the Warkany et al. (1962) [17] or trisomy 8 syndrome. A dicentric autosome, dic(8) (qter leads to p21::p21 leads to qter), was found in all abnormal cells and evidence is presented that one centromere was inactive, ...
Higurashi M - - 1980
A survey of the birth prevalence of congenital anomalies among newborn infants in Japan is under way at a large maternity hospital in Tokyo. Of 14,430 consecutive newborn babies (7,455 M; 6,975 F), 33 had a multiple congenital anomalies (MCA) syndrome. These included 2 with trisomy 13 (including a mosaic), ...
Rodewald A - - 1979
This paper shows that the study of dermatoglyphics is an objective aid in the clinical diagnosis of chromosomal dysmorphic syndromes. The dermatologlyphic patterns of four patients with trisomy 9p were analyzed and compared with dermatoglyphic data from 63 published case reports on the condition. We consider that the following traits ...
Parloir C - - 1979
In the present report two siblings with the typical Down's phenotype but without evident full or partial 21 trisomy are described. The finding of a regular 21 trisomy in a minority of the cells in the elder patient favors the hypothesis that both present a hardly demonstrable normal/trisomy 21 mosaicism ...
Bass H N - - 1979
An isochromosome for the long arm of chromosome number 18 - 46,XY,i(18q) - was found in an infant who had features of both trisomy 18 and 18p- syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker-bottom feet. Those of 18p- ...
Leschot N J - - 1979
A clinical description is given of a syndrome present in three postnatally and two prenatally detected cases with partial trisomy 16p, caused by a familial translocation t(16;21) (p11;q22). The most consistent features of this syndrome are: low birth weight, small head circumference, low-set ears, palato(gnatho)schisis, micrognathia, thumb-agenesis or hypoplasia, hypertonia, ...
Wilson W A - - 1979
Several cytogenetic syndromes are reviewed, and the salient ocular and facial abnormalities that might lead to a diagnosis are pointed out. Examples are given of mongoloid slant to the palpebral fissures, not only in Down's syndrome, but also in monosomy 9p, where, in addition, the triangular skull is almost diagnostic. ...
Fryns J P - - 1979
The 18q- syndrome is described in a mother and her daughter. In both of them an identical, apparently balanced 18q-/14p+ translocation was found (Karyotype: 46,XX,t(14;18)(p11;q21), suggesting that chromosomal material was lost in the process of translocation. The segment deleted and responsible for the 18q- phenotype must be located in or ...
Bruneton J N - - 1979
Angio-immunoblastic lymphadenopathy (AIL) produces a characteristic lymphoproliferative syndrome, with characteristic lymphographic appearances. The authors studied the lymphographic manifestations of 18 cases of AIL. In 15 out of 18 cases, enlargement is observed in all the lymph nodes with a lacy or reticular storage pattern and sharp, well delimited margins. This ...
Kondo I - - 1979
An infant with karyotype 46,XY,der(8),t(3;8)(q21;p23) is presented. The presence of trisomy 3q21 leads to qter syndrome is suspected on the basis of comparison of the clinical and laboratory findings of this patient with those of cases that have been reported as partial 3q trisomy. The common phenotypic features of this ...
Ishikawa S - - 1979
A premature infant with trisomy 18 had cardiac defects including parachute mitral valve, coarctation of the aorta, and a subcristal ventricular septal defect. The parachute mitral valve was funnel-shaped with a moderately-thick cone of fibrous tissue around the annulus and an eccentric orifice. Many forms of congenital cardiac defects have ...
Chen H - - 1979
A male infant with partial trisomy 1q syndrome (46,XY,der(21),t(1;21)(q25;q22)pat) is described. Clinical findings include small for gestational age, hypoglycemia, ocular hypertelorism, microphthalmia, coloboma of the iris, low-set ears, beak nose, micrognathia, micropenis, cryptorchidism, presacral dimple, flexion contractures of the fingers, bifid thumb, Simian crease, and overriding toes. In addition, he ...
Corgan R L - - 1979
Twelve parents of children with genetic diseases (Klinefelter syndrome, trisomy 21, lactase deficiency, phenylketonemia, Noonan syndrome, ichthyosis, Prader-Willi syndrome, and trisomy 13) were tested with the Tennessee Self-Concept Scale prior to and immediately after genetic counseling. Total Positive Score, indicative of self-esteem level, changed significantly. The score increased due to ...
Rodewald A - - 1978
Dermatoglyphic findings are reported for six members of a family in which two patients have partial trisomy for the short arm of chromosome 10(p13 leads to pter) and there are two unaffected carriers of the balanced translocation t(5;10)(p15;p13). The patterns are compared with those of nine other published cases of ...
Bass H N - - 1978
A moderately retarded girl had a 47,XX,+der(18),t(9;18)(p24;q21)mat abnormality that was inherited from her mother, who had a 46,XX,t(9;18)(p24;q21) karyotype in most cells, and a minor cell line of 47,XX,+der(18),-t(9;18)(p24;q21). Her dysmorphic features--bilateral epicanthic folds, low-set, abnormal ears, low posterior hairline, clinodactyly of the 5th fingers, and broad great toes--were similar ...
Szulman A E - - 1978
Hydatidiform moles studied with respect to cytogenetics and morphologic constitution were divisible into two syndromes: (1) complete, classical mole giving a 46 XX karyotype and (2) partial mole with an ascertainable embryo/fetus, dead or alive, giving a triploid karyotype. The complete moles undergo early and total hydatidiform change from edema ...
Chen H - - 1978
A female patient with mild mental retardation with spatial perceptual difficulties, microcephaly, depressed nasal root, receding chin, webbed neck, low hairline, shield chest, cubitus valgus, scoliosis and dermatoglyphic findings not characteristic of Down's syndrome is reported. In addition to X/XXX, she had a partial trisomy 21 of the short arm-centromere-proximal ...
Habedank M - - 1978
Two sisters are described, each with a specific retardation syndrome due to a balanced reciprocal translocation 9p;21q in the mother. As a result of different 3:1 segregations, one of them has a trisomy 9p with all typical features; the other one reveals a typical Down's syndrome having an unusual translocation ...
Pérez-Castillo A - - 1978
This paper reports the case of a one-day-old male child presenting the typical features of Patau's syndrome. The cytogenetic study by means of conventional techniques and GTG and QFQ banding techniques showed that the chromosomal pattern of the propositus was 46,XYq+,-21,+t(13q21q) 15ps+,22ps+, and that the nondisjunction that originated the translocation ...
Fried K - - 1978
A newborn female infant presented with the classical picture of 18 trisomy syndrome. Her karyotyping was 47,XX,+der(18)t(12;18)(q24;q21)mat. The mother was a balanced reciprocal translocation carrier and so too was one of the two maternal uncles of the proposita, indicating that the translocation was already present in one of the grandparents ...
Qazi Q H - - 1977
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 ...
Medina J L - - 1977
Three patients presented with sudden visual impairment followed by agitated delirium one to three days later. Examination revealed marked agitation, dementia, and loss of vision. Computerised axial tomography demonstrated temporo-occipital infarctions. All recovered from the agitated state in four days to two months, but their visual impairment and dementia persisted ...
Cervenka J - - 1977
The case of a 10-month-old girl with an extra G-like chromosome is presented. Quinacrine, trypsin-Giemsa, and reverse banding identified the extra chromosome as no. 22. The phenotype of the patient is unique in that unilateral iris coloboma was observed, unlike the 18 cases of full trisomy 22 already published. This ...
Giovannelli G - - 1977
The main endocrinological parameters were investigated in two sisters affected with trisomy 4p. Our findings rule out any impairment of the endocrine system in this rare syndrome, even in those cases in which stunting of growth is more pronounced. The marked weight deficit in one of the two patients had ...
Garlinger P - - 1977
A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including ...
Kardon N B - - 1977
A case of de novo trisomy 9p was observed. Cytogenetic analysis of G-, R-, Q-, and C-banded preparations revealed a karyotypic description of 47,XY,+del(9)(pter leads to q13). In addition to the principal characteristics of the 9p trisomy syndrome, the child presented with skeletal and urogenital abnormalities. It appears that certain ...
Menashi M - - 1977
A fetus of 20 to 21 weeks of development with the trisomy 18 syndrome has been described. In addition to the phenotypic manifestations usually associated with the syndrome, i.e., low set ears, short neck, omphalocoele, flexion of fingers with the convergence of the second and fifth digits, rocker bottom feet, ...
Shiono H - - 1977
The case presented here may be the first identified report of Down syndrome with 21 trisomy in one child of triplets. One triplet died at 1 month of age; his facial appearance was not typical of Down syndrome. Detailed testing of blood groups suggested identical origin in the remaining two ...
Riccardi V M - - 1977
The Warkany syndrome is characterized by mental retardation, relatively specific facies, absent or dysplastic patellas, joint contractures, plantar/palmar furrows, distinctively abnormal toe posture, vertebral anomalies, narrow pelvis, ureteral-renal anomalies, or other abnormalities. There is no association with advanced parental age, and birthweight and length are usually commensurate with gestational age. ...
Howard-Peebles P N - - 1977
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 leads to 9q22 and monosomic for 13pter leads to 13q12, as the result of adjacent-2 segregation during meiosis in her mother. ...
Begleiter M L - - 1976
A small-for-dates male infant with mental retardation, microcephaly, malformed ears, preauricular sinuses, epicanthal folds, micrognathia, congenital heart diseases, micropenis, and micropolygyria of the parietal and occipital lobes of the cerebral cortex was shown to have a 47,XY,+22 karyotype by trypsin-giemsa banding. Review of reported cases confirms that there may be ...
Mikkelsen M - - 1976
The aim of the study was to obtain incidence figures for Down's syndrome throughout a period where a considerable change in the age distribution of child-bearing mothers has taken place and to study if the expected fall in incidence has occurred. In parts of the Copenhagen Metropolitan area 235 liveborn ...
Sampliner J - - 1976
An intraluminal duodenal diverticulum is an uncommon congenital abnormality that may produce intermittent ostruction. The true pathogenesis of this lesion is still disputed, but it probably results from ballooning of a congenital web or diaphragm with prolonged peristalsis. An intraluminal "wind sock"-like structure filed with barium and surrounded by a ...
Jotterand M - - 1976
The first child of a mother with a balanced translocation (9;13) revealed a trisomy for the distal third of 13q. Clinical signs were microcephaly, hemangiomata, long incurved eyelashes, strabismus, enlarged bridge of the nose, abnormally long philtrum, high-arched palate, low set ears, hexadactyly of the four extremities, umbilical and inguinal ...
Chen H - - 1976
Two cases are reported of familial partial trisomy 6q syndrome due to segregation of ins(5;6) (q33;q15q27) in three generations. The common clinical features include growth and mental retardation, feeding difficulty during infancy, microcephaly with downward slanting palpebral fissures, flattened nasal bridge with anteverted and flared nares, long philtrum, high arched ...
Sutherland G R - - 1976
Two infants with trisomy involving chromosome 9 are described. One had complete trisomy 9 and the other karyotype 47,XX,+der(9),t(7;9) (p22;q32)mat. A trisomy 9 syndrome is delineated, consisting of features of the trisomy 9p syndrome and various other malformations. These include abnormalities of the cardiovascular and urogenital systems, cranial suture anomalies, ...
Monteleone P - - 1976
The significance of partial trisomies of the B group is as yet unknown. An infant with multiple congenital anomalies was found to have a partial trisomy 5p+ syndrome. The father of this patient demonstrated a 5/9 translocation carrier state. A discussion of the relationship of the partial 5p+ syndrome to ...
Saadi A A - - 1976
Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. ...
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