1/9. Unbalanced translocation t(15;22) in "severe" prader-willi syndrome.A 13-year-old girl with an unbalanced karyotype 45,XX,-15,der(22)t(15;22)(q13;q13.3) de novo had prader-willi syndrome (PWS), (score 13.5), but with features of mental and physical retardation more severe than usually seen in PWS. The clinical diagnosis of PWS was confirmed by methylation analysis that showed absence of the paternal band. With GTG banding, the cytogenetic breakpoint on chromosome 15q13, with 15q14 intact, encompassed the PWS region, while the breakpoint on 22q was terminal. Investigations with FISH utilised ten different probes/combinations, namely SNRPN/PML, TUPLE1/22q13.3, TUPLE/ARSA, GABRB3, three YAC clones and one cosmid for specific regions within chromosome 15q, painting probes for the long arm of chromosomes 15 and 22 and a pantelomere probe. Deletion of SNRPN,TYAC 9 (at 15q11-12), TYAC19 (at 15q13) and GABRB3 (within the PWS locus), was evident on the derivative (22) chromosome, while TYAC10 (at 15q22), cos15-5 (at 15q22) and PML (15q22) were not deleted. On the der(22), 22q13.3 and ARSA were not deleted, but the most distal non specific pantelomeric probe was deleted. Thus, the severe phenotype could be attributable to deletion on chromosome 15q extending beyond q13 to q14, (further than the usual chromosome 15q deletion (q11-13) in PWS), or be related to loss of the very terminal 22q region (from ARSA to the pantelomere) or be due to genetic factors elsewhere in the genome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/9. Problems in the diagnosis of fragile x syndrome in young children are still present.fragile x syndrome is common; its prevalence approaches 1 per 5,000. fragile x syndrome is the most common inherited cause of mental retardation. Many professionals must deal with fragile X individuals on a daily basis. However, despite the diverse information on the epidemiology, clinical features, unique pattern of inheritance, cytogenetic, and molecular diagnosis and scales for the diagnosis of this syndrome, the diagnosis of fragile x syndrome is still not always made by the patients' specialists. Here we present the difficulties in the diagnosis of fragile x syndrome in 11 children under 8 years of age, 10 boys and one girl. We report data on initial symptoms, behavioral features, and physical and mental development before molecular studies were considered. The possible causes for the diagnosis delay were multiple: nonspecific features (e.g., macrocephaly, overgrowth, obesity), unremarkable physical examination, family history apparently noncontributory, and lack of or delayed molecular testing. Careful clinical examination of young children and dna screening in case of doubt, and education of professionals in medical specialty areas, behavioral sciences, education, and other fields are recommended.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
3/9. Boy with 47,XXY,del(15)(q11.2q13) karyotype and prader-willi syndrome: a new case and review of the literature.We report on a 10-year-old boy with a 47,XXY,del(15)(q11.2q13) karyotype and a prader-willi syndrome phenotype. His medical history and physical examination conformed to all of the major clinical criteria for prader-willi syndrome, but his height was taller than expected based on his hand and foot sizes. The deleted chromosome 15 was paternal in origin and molecular analysis showed maternal origin for the additional x chromosome. These findings suggest that the presence of these two disorders was coincidental in our patient. This supports the findings in the two other 47,XXY and Prader-Willi cases for which parent of origin studies have been published. Given the information from the literature and presented herein, we suggest that genetic counseling for cases of PWS and 47,XXY should address these two conditions separately.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/9. Hypocretin deficiency in prader-willi syndrome.Four patients with clinically and genetically confirmed prader-willi syndrome (PWS) underwent nocturnal polysomnograpy (PSG), multiple sleep latency test (MSLT), human leukocyte antigens (HLA) typing and estimation of cerebrospinal fluid (CSF) hypocretin-1 (Hcrt-1) level to investigate if a role of hypothalamic dysfunction and sleep disturbance might be functionally connected through the hypocretin (orexin) system. In all four patients physical examination confirmed extreme obesity (increasing with age) with dysmorphogenetic features. Excessive daytime sleepiness (EDS) was manifested in only two subjects without any imperative feature. None of the patients under study suffered from cataplexy. Nocturnal PSG revealed fragmented sleep with low efficiency, the hypopnea and apnea indexes increasing from borderline up to very high values in direct proportion to the patients' age. MSLT latency was shortened in two patients with clinically expressed EDS, only one sleep onset rapid eye movements (REM) period (SOREM) was found. HLA typing showed DQB1*0602 positivity in two patients; the further two were negative. Mean value of CSF Hcrt-1 in the patients group was down to 164 /- 46.8 pg/ml (in comparison with 265.8 /- 48.8 pg/ml in 10 young healthy subjects, P=0.02). The deficiency of CSF Hcrt-1 level correlated in PWS patients with their EDS severity.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/9. Unique karyotypes in two patients with prader-willi syndrome.A physical disruption of the prader-willi syndrome (PWS) chromosome region is thought to cause PWS. We describe 2 girls with PWS phenotype, who had unique chromosome 15 abnormalities. The first patient showed mosaicism: 45,XX,t(15;15)(qter p11.1::q11.200 qter)/46,XX,t(15;15)(qter p1 1.1::q 11.200 qter), mar. The band 15q11.2 apparently remained intact in the t(15;15) chromosome, and the mar chromosome was considered as r(15) (p11.1q11.1). The second patient had a karyotype of 47,XX,del(15)(q11.200 q11.207), idic (15)(pter q11.1::q11.1 pter). The complex breakage and reunion involving the 15q11.2 regions of the father's homologous chromosomes 15 at meiosis appeared to have resulted in the idic(15) and the del(15) chromosomes. These cytogenetic findings suggest that the PWS chromosome region may be localized on the very proximal portion of band 15q11.2.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/9. Development of a young man with prader-willi syndrome and secondary functional encopresis.A case review of a twenty-two year old man suffering from prader-willi syndrome, Secondary Functional encopresis, mental retardation and aggressive behaviour is presented. Emphasis is made in assessing this man from various developmental perspectives. This includes: personality development, cognitive development, physical abilities, sexual development and family life stage. The role of a psychiatrist in treating this complex problem is established. An eclectic approach to treatment is reviewed using many therapeutic modalities found effective with the mentally handicapped. These modalities include: group therapy, play therapy, individual psychotherapy, behavioural therapy, family therapy, and use of medication. A literature review of prader-willi syndrome is included.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/9. Non-reciprocal translocation (5;15), isodicentric (15) and prader-willi syndrome.A non-reciprocal translocation (5;15) and an isodicentric (15) resulting in trisomy 15pter 15q1?3 and monosomy 5qter [46,XY,-5,-15, der(5)t(5;15) (5pter 5q35::15q13 15qter), idic(15) (pter q1?3::q1?3 pter)] was found in a 28-year-old profoundly retarded male resident of a state institution. Early developmental history and childhood and adult physical findings resembled those of prader-willi syndrome (PWS) patients. The parents' unbanded chromosomes were normal. blood groups of parents and propositus were uninformative with regard to identifying gene deletions or duplications.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/9. The nutrition and growth over a 10 month period of an infant with the prader-willi syndrome.The nutritional status and growth of infants in the pre-obese phase of the prader-willi syndrome has not previously been investigated. In this study the daily energy and protein intake of a male infant with this syndrome was measured from the 21st to the 330th day of life, together with weekly weight and monthly height measurements. The primary source of food was expressed breast milk. Daily energy intake was 29-66 per cent below recommended amounts. Protein intake did not exceed 12 g per day. body weight remained at or below the third centile with a marked downward trend at 6 months. The symptoms associated with the prader-willi syndrome result in a lack of physical maturity; poor feeding exacerbates this situation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/9. Prader-Willi-like syndrome in a patient with an Xq23q25 duplication.We report on a 24-year old woman with an Xq duplication and findings suggestive of prader-willi syndrome (PWS). Her birth weight was at the 3rd centile and her birth length was less than the 3rd centile. She was hypotonic and had a weak cry as an infant. There were no feeding difficulties, although her mother reports that as an infant, she was "small for her age." Excessive weight gain began between 3 and 4 years. The patient's development was delayed and she received special education. She has a history of hiding food. She has a sleep disturbance disorder and inappropriate social behavior. At the age of 24 years her height was below the 5th centile and weight >>95th centile. She has physical findings typical of PWS, skin picking, and speech articulation defects. cytogenetic analysis showed a 46,X,dup(X)(q23q25) karyotype. Fluorescent in situ hybridization (FISH) studies using a chromosome X painting probe demonstrated that the rearrangement was intrachromosomal. The X-chromosome fold scoring technique was used to determine the X inactivation pattern and indicated that some cells expressed the abnormal x chromosome. Results of FISH studies using the SNRPN probe localized to 15q11q13 and dna studies using the PW71B and SNRPN probes were normal. The duplicated x chromosome, random X inactivation pattern, and the negative molecular studies for PWS indicate that the abnormal x chromosome is the basis of this patient's phenotype. This patient emphasizes the importance of obtaining a karyotype even when a syndrome diagnosable by molecular methods is strongly suspected.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |