Interstitial deletion of long arm of chromosome 13

The case is presented of a patient with the karyotype 46,XX,del(13q)(pter----q22::q32----qter) confirmed by densitometry and a phenotype of mental and growth deficiency, hypotonia, hypertelorism, ptosis, broad nasal bridge, protruding upper incisors, short neck, dislocation of the hip, hypoplasia of the thumbs, fusion of fourth and fifth metacarpal bones and syndactyly of toes. The findings are compared with those of well documented cases with a similar deleted segment of the long arm of chromosome 13. Although it seems obvious that a clinical syndrome for the distal deletion 13q appears to exist more studies with banded chromosomes are needed.     

Short arm deletion of chromosome 12: report of two new cases.

Two boys (W.M. and C.P.) are described, in each of whom a short-arm deleted C chromosome was apparently present. The clinical findings on W.M. are stenosis of the sagittal sutura associated with atrophy of the nervus opticus and mental retardation, and on C.P. osteogenesis imperfecta. An analysis of the G- and Q-banding patterns revealed in each patient a 12p-- chromosome. The deletion involved most of band p12 as shown by length measurements on G-banded chromosomes. Both cases were compared to proven and presumed cases of 12p-- from literature, but no common clinical phenotype could be demonstrated.     

Interstitial deletion of the long arm of chromosome 11

A female patient with an interstitial deletion of the long arm of chromosome 11 is described. Her growth and psychomotor development were normal. She showed some facial dysmorphic features including cleft lip/palate, a probable cardiac defect and a triphalangeal thumb. A clinical correlation with similar cases is presented.     

Interstitial deletion of the long arm of chromosome 7

Summary Chromosome studies were carried out in a girl because of psychomotor retardation and difficulty in swallowing. The girl was admitted to hospital for the first time when 25 months old. The most characteristic signs revealed by the physical examination were short distal ulnar phalanges, clitoral hypertrophy, and very thin outer ear cartilages.An interstitial deletion of the long arm of chromosome 7 was observed: 7q22::7q31.Laboratory investigations revealed a remarkably high level of IgG, immunoglobulin, and an elevated value of serum FSH. No evidence of gene loci located at the deleted part of chromosome 7 were found.     

Interstitial deletion of the short arm of chromosome 3

Summary A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pterp14.2::p11qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies, a slight ureteric dilatation and a mobile caecum. Our observations are compared with five other cases with interstitial deletion of the short arm of chromosome 3 to delineate further the proximal 3p deletion syndrome. The gene for beta-galactosidase-1 (GLB-1) has previously been assigned to chromosome 3(p21q21). The absence of a gene dosis effect for GLB-1 in this study indicates exclusion of GLB-1 from 3(p11p14.2).     

Interstitial deletion of the long arm of chromosome 3

A patient with multiple congenital malformations and developmental delay is reported. Her karyotype is 46,XX,del(3)(q23q25).     

Interstitial deletion in the long arm of chromosome 7

An interstitial deletion of 7q (q31.2-q32.3) is reported. Main features of this boy included facial dysmorphy, psychomotor retardation and absence of language.     

Interstitial deletion of chromosome 13 and associated congenital anomalies

Summary An interstitial deletion of chromosome 13 with breakpoints at 13q22 and 13q32 is presented. The clinical findings associated with this deletion are discussed in relation to the correlations of specific chromosomal bands with constellations of congenital defects as described by Niebuhr and Ottosen (1973), Niebuhr (1977), Lewandowski and Yunis (1975), and Noel et al. (1976).     

Interstitial deletion of chromosome 7 detected in three unrelated patients

Summary Chromosome studies were carried out on three patients for the following reasons: (1) growth retardation and mental subnormality in a boy; (2) marked developmental delay in a female infant; (3) routine check on a man whose wife had a stillborn with congenital anomalies.An interstitial deletion at 7q11::7q21 was observed in all three cases.     

Interstitial deletion of chromosome 13 involving the region 13q14

Summary A patient with an interstitial deletion 13q14 is described who has decreased erythrocyte esterase D activity and who has not developed a retinoblastoma.     

Interstitial deletion (2)(p13p15)

Summary A dysmorphic 5-year-old girl with severe growth and mental deficiency was studied. She presented a de novo interstitial 2p deletion. Karyotype: 46,XX,del(2)(p13p15).     

Interstitial deletion 13q syndromes: A report on two unrelated patients

Summary A partial monosomy 13 by interstitial deletion was found in the complement of two patients with mental retardation and mild dysmorphic features. Neither of the patients had a retinoblastoma, even though the second patient had a 13q14 deletion. The karyotype-phenotype correlation in the two patients suggests the need to reconsider the clinical profile of these rare chromosomal syndromes in a large series of subjects.     

X-ray-induced deletion complexes in embryonic stem cells on mouse chromosome 15

Chromosomal deletions have long been used as genetic tools in dissecting the functions of complex genomes, and new methodologies are still being developed to achieve the maximum coverage. In the mouse, where the chromosomal deletion coverage is far less extensive than that in Drosophila, substantial coverage of the genome with deletions is strongly desirable. This article reports the generation of three deletion complexes in the distal part of mouse Chromosome (Chr) 15. Chromosomal deletions were efficiently induced by X rays in embryonic stem (ES) cells around the Otoconin 90 (Oc90), SRY-box-containing gene 10 (Sox10), and carnitine palmitoyltransferase 1b (Cpt1b) loci. Deletions encompassing the Oc90 and Sox10 loci were transmitted to the offspring of the chimeric mice that were generated from deletion-bearing ES cells. Whereas deletion complexes encompassing the Sox10 and the Cpt1b loci overlap each other, no overlap of the Oc90 complex with the Sox10 complex was found, possibly indicating the existence of a haploinsufficient gene located between Oc90 and Sox10. Deletion frequency and size induced by X rays depend on the selective locus, possibly reflecting the existence of haplolethal genes in the vicinity of these loci that yield fewer and smaller deletions. Deletions induced in ES cells by X rays vary in size and location of breakpoints, which makes them desirable for mapping and for functional genomics studies.     

Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report.

In a mentally retarded female an interstitial deletion of a chromosome 9 and an additional ring chromosome was shown, which by positive hybridisation with a no 9 library was considered to be the excised segment. The functional centromere and C and DA/DAPI positive material as well on the ring chromosome are explained by a break within the centromere close to the constitutive heterochromatin and supports the hypothesis of "latent" centromere(s).     

Phenotypical characterization of 13q deletion syndrome: Report of two cases

Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33-q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations.