Terminal deletion of the long arm of chromosome 1 in a malformed newborn.
Microcephaly and craniofacial dysmorphia, cleft palate, cardiac malformation, and hypospadias are observed in a child with 46,XY,del (1)(q42).
Chromosome Deletion↗
Biomedical subjects
R A Pfeiffer
Publications and source records attributed to R A Pfeiffer.
Combination of silver and fluorescent staining for metaphase chromosomes.
A convenient and reliable method for simulatneous visualization of silver staining (Ag-NOR) of the nucleolus organizers and fluorescent bandings in metaphase chromosomes is described. Studies employing this combined procedure on human chromosomes revealed that the Ag-NOR patterns may be characteristic for each chromosome of each individual.
Chromosomes↗
Beta-glucuronidase deficiency in a girl with unusual clinical features.
beta-glucuronidase deficiency in fibroblasts, leucocytes and in serum and increased urinary excretion of mucopolysaccharides were found in a girl, now 13 years old, who exhibits some features of a mucopolysaccharidosis such as moderate mental deficiency, craniofacial dysmorphism, a short neck, protruding sternum, vertebral deformities and corneal clouding. Coarse granulations were found in her leucocytes. The liver and spleen are not enlarged and there is no gingival hyperplasia. Additional features, hitherto undescribed, are hydronephrosis and defective ossification of the medial carpal and tarsal bones. Low enzyme activity in the parents and a normal brother suggests heterozygosity.
Adolescent↗
[Hypoplasia ponto-neocerebellaris (author's transl)].
In an otherwise healthy family three male infants fell ill with microcephaly, hypotonus of the muscles, non-specific hyperkineses, seizures, and rapid mental deterioration. In addition to microdysplasia in the cerebral cortex the main neuropathological findings were the separation of the dentate nucleus into many islets, an atypical band of the inferior olives, and deficiency of the pontocerebellar fibers in the basal part of the pons. The hypoplasia of the areas involved can be distinguished from the degenerative process in the dégénérescence systematisé optico-cochleo-dentelé (Nyssen-van Bogaert).
Brain↗
47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22.
Report of a supernumerary extra chromosome der(11;22)(q23;q12) resulting from a balanced translocation in the mother. The propositus suffers from mental deficiency, deafness and extreme muscular weakness and exhibits cleft palate, a labial lymphangioma and an atrial septum defect. Since the features of partial trisomy 11q23 frequently associated with a translocation t(11q;22q) bear similarities with the cases of so called trisomy 22 one might conjecture that some of these observations are in fact products of translocations including partial 11q.
Abnormalities, Multiple↗
A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressive stiffness of the joints and high-pitched voice in two siblings.
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Adolescent↗
Duplication deficiency of an X-chromosome with and without 45,X mosaicism in three girls. Cytogenetic, clinical, and hormonal findings.
In three girls, aged 14, 15 and 16 years, the chromosome analysis revealed a morphologically abnormal, enlarged X-chromosome resembling in size and centromere position the chromosome no. 2. The translocation points were different in all three cases. The Barr-bodies were enlarged. In two girls a 45,X mosaicism (25% and 10%) was found in lymphocyte cultures. The length at birth was 43, 47 and 48 cm, and none of the girls was born before term. The main clinical abnormalities in all three cases were a marked growth retardation, slight morphological dysplasias, lack of sexual development and social immaturity. GH and cortisol secretion during an insulin tolerance test were normal. LH and FSH were elevated and showed an exaggerated reaction on LH-RH. Oestrogens were low normal and androgens within the normal range. At laparatomy the gonads were found to be streak gonads. For two girls cell cultures of gonadal tissue were set up, the chromosome findings of which corresponded to those of the lymphocyte cultures. The abnormality of the gonosomes reported here seems to represent a special form of gonadal dysgenesis. Although the translocation points were different in the three patients and one had no mosaic, while the other two showed 45,X/46,XX mosaicism, the clinical and hormonal findings were nearly the same for all three girls.
Adolescent↗
Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21.
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.
Child↗
46,XX/46,XX,r(15) mosaiciam: report of a case.
Mosaicism of cells with a normal karyotype or with a ring chromosome no. 15 was found in a girl with hypoplasia of the thumbs, club feet, mental retardation, and short stature, which seems to be a feature of this chromosomal aberration.
Abnormalities, Multiple↗
Limb anomalies in chromosomal aberrations.
This survey shows that there are at least 6 autosomal and 2 gonosomal aberrations which may produce specific types of limb anomaly in 30%-80% of cases. The "expressivity" of these anomalies covers a wide range within the morphogenetic pattern. No entirely specific malformation type is seen. The most unusual malformation, aplasia of the thumbs with proximal synostosis of the 4th aand 5th metacarpals, is seen in 13q- (13r) but the precise cytogenetic basis is not clear. Aplasia of the thumb associated with synostosis of the 4th and 5th metacarpals was occasionally described before (unilateral [105], bilateral [106] while synostosis only (V or Y shaped) may be due to a dominant [107] or an X-linked recessive gene [108]. Reduction malformations limited to radial heminelia have been noted in 4q- (4r) and in trisomy 18. Although the number of cases is still small the pattern is similar to that of thalidomide embryopathy, radial hemimelia (AD, 17910), cardiodigital syndromes (AD, 14290), and even Fanconi panmyelopathy (AR, 22790). It ranges from hypoplasia of the thenar muscles and thumb to pseudophocomelia which should be clearly distinguished from phocomelia because of the absence of the thumb and frequently of the 2nd and 3rd fingers. Nothing has to be added to the teratologic series published by Müller [58] and, more recently, Willert and Henkel [109], but the distribution of the various manifestations may diverge. Asymmetry in 4q- (4r) is noteworthy. Postaxial polydactyly which is noted in trisomy 13 and trisomy of the terminal portions of the long arm of No. 13 is as variable in distribution and morphology as is observed in families in which the gene (AD, 17420) is transmitted. The question cannot yet be answered whether infrequent anomalies of the limbs which do not fit into the morphologic pattern of these types, eg postaxial polydactyly in + 18 or absence of the radius in + 13 are random. Syndactyly of the 3rd and 4th but also of other digits is a frequent but variable anomaly in triploidy. It is very similar to hereditary zygodactyly (AD, 18590). Peripheral hypoplasia of several digits accompanied by onychodysplasia seems to be a frequent anomaly in 9p+ syndrome. It is similar to that seen in a syndrome with mental deficiency, peculiar facies, and stunted growth [110] in which no chromosomal aberration has been found up to the present. Dysostoses have been frequently noted in gonosomal aberations. Brachymetopodia in XO females maybe confused with pseudo-pseudohypoparathyroidism (XR, 30080) or brachydactyly type E (AD, 11330) when only the lateral metacarpals and/or metatarsals are shortened. However, further studies are needed in order to delineate these syndromes on the basis of different frequencies and radiologic patterns. The radioulnar synostosis noted in cases with supernumerary X chromosomes cannot be distinguished from the inherited anomaly (AD, 17930), but associated anomalies of the hand are uncommon.
Child↗
[Acrocephalopolysyndactyly (type II (McKusick) acrocephalosyndactyly or Carpenter's syndrome. Report on 4 cases and an observation of the syndrome of Marshall-Smith (author's transl)].
Four observations of Carpenter's Syndrome, two siblings and two unrelated children, and a case of Marshall-Smith's Syndrome are reported, all sharing duplication of the terminal phalanx of the big toe and a dyskephaly. Carpenter's Syndrome has been noted in at least 27 cases inheritance; is autosomalcessive. Main features are: oxycephaly, odd facies, brachyclinosyndactyly of the hands, polysyndactyly of the feet, cardiac malformation. The question is to be answered whether all cases are genetically identical.
Abnormalities, Multiple↗
[The Schwartz-Jampel syndrome (myotonia chondrodystrophica)].
Report on three siblings with typical features of Schwartz-Jampel's syndrome which is transmitted by a rare autosomal recessive gene: odd facies, stiff posture, high pitched voice, myotonic reaction, Perthes-like dysplasia of the femoral head. Biochemical and histological findings are minimal and nonspecific.
Abnormalities, Multiple↗
[Hemihypertrophy, nevus sebaceous, multiple bone cysts and cerebroretinal angiomatosis: a complex phakomatosis].
Report on a girl, who died at the age of 6 1/2 years having exhibited different dysplasias which are characteristic features of several phakomatoses: congenital cutaneous pigmentations, fibrolipoma of the scalp, hypertrophy of the right leg, multiple cysts of the long bones (fibrous dysplasia), and an aneurysma racemosum of the retina and mid-brain (syndrome of Bonnet-Blanc-Dechaume).
Angiomatosis↗
Partial trisomy 15q1.
A supernumerary extra chromosome of maternal origin, precisely described from QM- and C-banding patterns, was studied in a mentally defective boy with a severe convulsive disorder. This case is considered to represent a specific phenotype of trisomy 15q1. The suggestion that in cases of partial trisomy 15q different phenotypes are due to the second chromosome involved in interchange is supported by the observation of a tertiary trisomy in 2 sibs. It resulted from a balanced reciprocal translocation in the mother t(8q+15q--) and caused an unusual malformation syndrome (mental deficiency, cleft lip and palate, funnel chest, hypospadias).
Child↗
[Acromesomelic dwarfism (author's transl)A1].
Report on two brothers exhibiting the characteristic features of acromesomelic dwarfism first delineated in 1971, in which the shortening of the forearms and hands/feet are pronounced.20
Adult↗
[Stickler's syndrome: case report with intrafamilial variability].
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Female↗
[The campomelic syndrome (author's transl)].
Case report of a male infant who died from asphyxia on the second day of life and who exhibited typical features of the campomelic syndrome: odd facies, bowing of the long bones of the legs, skeletal deformities, cleft palate. There was also coarctatio of the aorta and probably aplasia of the fibula.
Abnormalities, Multiple↗
[Hypomelanosis cutis ITO (author's transl)].
Report on a 9 year old girl exhibiting the typical features of Ito's syndrome: systematized bilateral depigmented nevus associated with various nonspecific dysplasias. The pathogenesis is not known. The syndrome geems to be transmitted by an irregularly dominant gene.
Biopsy↗