Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Trisomy for the distal third of the long arm of chromosome 19 was observed in a 12-year-old boy and his 9-year-old sister. Both are affected by extremely severe statural and psychomotor retardation. The physical symptoms common to both are dwarfism, micro- and brachycephaly, antimongoloid slant of the eyes, hypertelorism, ptosis, short nose, short philtrum, poorly formed ears, short neck with excess skin, barrel-shaped thorax, diastasis of rectus muscles, kyphosis, sacral dimple, excess of digital arches, pedes valgi, laterally curved big toes, epilepsy and muscular hypotonia. The chromosomal anomaly was transmitted by the mother, who is the carrier of a translocation t(19;20)(19q133;20pter). In the pedigree, extending over four generations, among 30 pregnancies fathered or mothered by 5 carriers resulted in: 6 individuals with normal karyotype, 9 carriers, 2 confirmed and 2 presumptive unbalanced abnormal children, and 10 abortions.
 ...
PMID:Trisomy for the distal third of the long arm of chromosome 19 in brother and sister. 43 69

Trisomy for a small terminal segment of chromosome 6q produces a characteristic syndrome of malformations and dysmorphic signs which, on the basis of comparison with a previously published case, may be suspected on clinical grounds. The present case concerns a 7-year-old boy, the son of a carrier mother t(6;14)(q25;qter). The main symptoms are: very severe physical and mental retardation, turricephaly, Cupid's bow mouth with narrow lips, almond-shaped eyes with narrow palpebral fissures and ptosis, micropenis with absence of scrotum, club feet, hammer toes, and extension contractures. In addition, there are a great many minor dysmorphic features.
 ...
PMID:Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet. 43 71

Two unrelated patients carrying imbalances involving the long arm of chromosome 6 are described. In the first trisomy 6q21 leads to qter had segregated from a maternal translocation t(6;16)(q15;q24). The clinical data of the proposita are compared with those of three other published cases. A partial 6q trisomy syndrome is postulated characterized by: growth deficiency of prenatal onset, psychomotor retardation, craniofacial abnormalities (microcephalia, hypertelorism, downward slanting palpebral fissures, flattened nasal bridge, long philtrum, hypoplastic perioral features, large jaw resulting in a round appearance of the face, receding chin, malformed ears) and dysmorphic extremities (contractures of limbs due to short flexor tendons, hypoplastic fingers, toes and nails). In the second case, monosomy 6q221 leads to qter resulted from a de novo rearrangement and was responsible for mental retardation and facial dysmorphism (reduced biparietal diameter, hypotelorism, absent eyebrows, prominent nose, ptosis, receding chin, dysmorphic ears). Studies of HLA and PGM3 segregation showed normal inheritance patterns and ruled out the location of these genes in bands 6q221 leads to qter.
 ...
PMID:Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patients. 75 83

Partial trisomy (interchromosomal duplication) of the short arm of chromosome No. 12 was observed in an infant girl with psychomotor retardation, prominent forehead, ptosis of the right eyelid, esotropia/exotropia, flat nose, hypotonia and other anomalies. A comparison of her features with those in five reported cases with a similar chromosomal imbalance shows certain features common to all, but the material is too limited for definitive characterization of a trisomy 12p syndrome.
 ...
PMID:Partial trisomy 12p due to t(12;21)pat translocation. 85 22

Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.
 ...
PMID:Trisomy 19 q. 108 17

A new case of trisomy 4p is reported. The patient was a boy with dysmorphism, growth failure and developmental retardation. Craniofacial features included microcephaly with a flat forehead, a prominent glabella, hyperteleorism, a broad, concave nasal bridge, a bulb-shaped nose, a wide mouth with a prominent upper lip and a short philtrum, low-set ears, a low hairline, micrognathia, and a short neck. Abdominal muscles were normal. Cryptorchidism with a hypoplastic scrotum and a micropenis were found, as well as forced flexion of the fingers and talipes equinus. The intravenous urogram disclosed ptosis of the right kidney. Developmental retardation was severe with an IQ under 50. RHG banding techniques on peripheral lymphocytes disclosed 4p14 pter duplication. The karyotype was 46,XY inv dup(4-p) (p14----pter). The mother's karyotype was normal. The father had a translocation between the short arm of chromosome 4 and the long arm of chromosome 15; his karyotype was 46,XY, t(4;15) (p14;q26). Thus, the child had trisomy for a segment of the short arm of chromosome 4 (p14----pter) and monosomy for the terminal band of the long arm of chromosome 15 (15q26). The first case of trisomy 4p was reported in 1970 by Wilson et al. Since then, there have been 46 additional reports in the medical literature. Although children with trisomy 4p share a number of features, the phenotypic manifestations of this chromosomal abnormality are variable and nonspecific, making clinical diagnosis difficult.
 ...
PMID:[4p trisomy secondary to paternal translocation t(4p-;15q+)]. 187 31

Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries. These anomalies in trisomy 22 mosaicism have not been emphasized heretofore. In each of our patients, trisomy 22 mosaicism was found only in fibroblasts. In one patient, the trisomy resulted from a paternal first meiotic nondisjunction, and in the 46,XX cells, both chromosomes 22 were of paternal origin.
 ...
PMID:Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata. 395 73

A new case of 9 p trisomy is reported in a 7-month-girl having typical morphological abnormalities and a mental retardation. During the examination, unusual ocular abnormalities were observed: pigmented linear dots of the mid peripheral retinal. Strabismus and hypertelorism were present. However, the other ocular features, blepharophimosis, correctopia, ptosis, microphthalmia, iris coloboma, unusual position of the eyelashes were not observed.
 ...
PMID:[Unusual ocular anomaly in 9 p trisomy: retinal depigmentation]. 403 67

Nine related individuals have been identified as being trisomic for the distal part of the long arm of chromosome 15 (15q23 to 15qter). The physical characteristics, especially the facial features, of these nine cases are similar and distinctive. These include: facial asymmetry, down-slanting palpebral fissures, ptosis, prominent nose, long philtrum, down-turned mouth, midline crease in the lower lip, puffy cheeks, and micrognathia. By comparing related individuals with the same translocation, the variability due to different breakpoints can be eliminated. Clinical similarities between unrelated individuals with similar duplicated 15q material, but differing second chromosomes, suggest that the phenotype is due to the extra distal 15q chromosomal material. We conclude that distal 15q trisomy produces a clinically recognizable syndrome.
 ...
PMID:Distal 15q trisomy: phenotypic comparison of nine cases in an extended family. 671 63

A grandfather with balanced translocation t(1:10) gave rise to three possible combinations involving chromosome 10: balanced translocation and trisomy for part of the short arm 10p13 leads to pter in the second generation, and mono- and trisomy 10p13 leads to pter in the third generation. The clinical signs and symptoms of the present case with monosomy 10p13 leads to pter are compared with those of 9 earlier reported cases with a deleted 10p. Together they represent a clinically recognizable syndrome with antimongoloid eye slant, ptosis, epicanthus, high arched or cleft palate, flat nasal bridge, micrognathia, small round and low-set ears, wide spaced nipples, cardiac and urinary tract abnormalities, hand and foot anomalies, hypoplasia/absence of the olfactory bulbs/tracts, psychomotor and growth retardation. More than 20 cases of the trisomy 10p syndrome have been described earlier. The most constant clinical findings are mental retardation, dolichocephaly, frontal bossing, broad nasal bridge, cheilo-palatoschisis, retrognathia and variable internal malformations. We found, however, the clinical characteristics in this syndrome more variable than for the monosomy 10p13 leads to pter syndrome. Our two cases, representing the eldest and the youngest described, have rather few of the typical characteristics, and few in common with each other. This indicates the difficulty in making this diagnosis on clinical features only without a cytogenetic verification.
 ...
PMID:Two chromosomal syndromes in the same family: monosomy and trisomy for part of the short arm of chromosome 10. 715 37


1 2 3 Next >>