geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome


, : Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome. American Journal of Medical Genetics. Part A 143a(2): 184-188

In recent years, subtelomeric rearrangements have been identified as a major cause Of Multiple congenital anomalies (MCA)/mental retardation (MR) syndromes. Currently, more than 2,500 individuals with MR have been tested and subtelomeric rearrangements were detected in about 6%. Therefore, subtelomeric FISH analysis is indicated as a second tier test after high-resolution G-banding analysis, in subjects with otherwise unexplained developmental delay/ MR and/or MCA. We describe a female patient and tier maternal aunt, both showing a distinct phenotype, associated with the same complex subtelomeric rearrangement. Subtelomeric FISH testing performed between I year 9 months and 20 years after the initial karyotype showed, in both patients, distal trisomy 12p and distal monosomy 10p as follows: 46,XX.ish der(10)t(10;12)(p15-3-,p13 31). Parental subtelomeric FISH analysis showed the proposita's mother (sister of Patient 2) and grandmother (mother to Patient 2), to have a balanced 10p:12p translocation. Both girls showed a similar phenotype with pre/postriatal growth retardation, dmoderate-to-severe developmental delay/MR, very poor/absent speech, hypotonia, lax ligaments, and a distinct pattern of malformation. On examination there were blepharophimosis; bilateral ptosis/epicanthus; broad, depressed nasal bridge with a beaked nose-, short philtrum: low-set, posteriorly rotated, overfolded ears; micrognathia; mild webbing of the neck; mild broadening of thumbs; puffy hands/feet-, long hallux; and sacral/coccygeal dimples. A slow overall improvement was seen in both patients over time. To out-knowledge, a complex Subtle rearrangement as the one seen it) Our patients has not been reported thus far. Our patients show features of partial 10p deletion syndrome rather than those of partial duplication 12p, confirming the general rule that deletions are more phenotypically penetrant than duplications. (c) 2006 Wiley-Liss, Inc.

US$19.90

PMID: 17163546

DOI: 10.1002/ajmg.a.31590


Other references

Murray, P.J.; Kranz, M.; Ladlow, M.; Taylor, S.; Berst, F.; Holmes, A.B.; Keavey, K.N.; Jaxa Chamiec, A.; Seale, P.W.; Stead, P.; Upton, R.J.; Croft, S.L.; Clegg, W.; Elsegood, M.R.J., 2001: The synthesis of cyclic tetrapeptoid analogues of the antiprotozoal natural product apicidin. A novel synthetic strategy is described which may be used to prepare analogues of the antimalarial, fungal metabolite apicidin. Compared to the natural product, one analogue shows potent and selective activity in vitro against the parasite Trypano...

Glazer, R.I.; Cohen, M.B.; Hartman, K.D.; Knode, M.C.; Lim, M.I.; Marquez, V.E., 1986: Induction of differentiation in the human promyelocytic leukemia cell line HL-60 by the cyclopentenyl analogue of cytidine. The effects of the cyclopentenyl (cCyd) and cyclopentyl (carbodine) analogues of cytidine on differentiation, and nucleic acid and nucleotide biosynthesis, were examined in the human promyelocytic leukemia cell line HL-60. Continuous exposure for...

Reeves, S.A.Jr, 1979: The effect of four planting dates upon the yield parameters of five sugarcane varieties in the Lower Rio Grande Valley of Texas. Two-year trials were carried out with 2 early cvs (L.62-96 and C.P.57-614), 2 mid-season cvs (C.P.65-357 and C.P.61-37), and one late cv. (N.Co.310) planted between mid-November and mid-March in the 1st year and between early October and late Apri...

Ammori, B.J.; Bhattacharya, D.; Senapati, P.S.P., 2002: Laparoscopic endogastric pseudocyst gastrostomy: a report of three cases. The transgastric pseudocyst-gastrostomy is the standard approach for internal drainage of persistent and large retrogastric pancreatic pseudocysts that complicate acute necrotizing pancreatitis. We report on the application of a laparoscopic endog...

Vasilenko, A.M.; Chistiakov, A.V.; Gol'tsev, I.A., 1989: Prevention by electropuncture of the hypoalgesic effect of fasting. The influence of electropuncture preventive effect on the dynamics of the human nonciceptive system parameters under conditions of fasting stress was studied in 12 healthy volunteers. The results bear evidence that fasting, just like other types o...

Masud, F.S.; Majid, A., 1984: Five years survey on ascariasis in buffalo and cow-calves in Multan Division. Of 1843 faecal samples collected from buffaloes in Multan, Pakistan, from 1974-79, 773 (41.94%) were positive for ascarids; 499 (35.08%) of cattle faecal samples were also positive. Prevalences are analysed with regard to month, season, host age,...

Li, T.; Chen, Y.; Zang, W.; Geng, N.; Ma, S.; Li, X., 2014: Prostacyclin and its analogues in pulmonary artery hypertension: a meta-analysis. Individual studies examining the effects of prostacyclin and its analogues on pulmonary artery hypertension (PAH) have reported controversial results. This study aims to evaluate the efficacy of these agents for PAH by a meta-analysis based on ran...

Wang, S.; Ge, K.; Roeder, R.G.; Hankinson, O., 2004: Role of mediator in transcriptional activation by the aryl hydrocarbon receptor. The aryl hydrocarbon receptor (AHR) binds many aromatic hydrocarbon compounds and mediates their carcinogenesis. We demonstrate that the endogenous AHR physically associates with the endogenous TRAP/DRIP/ ARC/Mediator complex in a ligand-dependent...

Pawlikowski, T.; Pawlikowski, K., 2003: Wasp Dolichovespula saxonica Fabr Hymenoptera Vespidae settling wooden breeding boxes for birds in the Borecka Forest Zasiedlanie drewnianych skrzynek legowych dla ptakow przez ose saksonska Dolichovespula saxonica Fabr Hymenoptera Vespidae w Puszczy Boreckiej. During vegetation seasons from 1992 to 1994 a settling of wooden breeding boxes for birds by the wasp Dolichovespula saxonica (FABR.) in typical forest habitats of Borecka Forest was observed. Interactions with birds, mammals and social insects we...

Ahlin, A., 1969: The function of the maxillary sinus. Tidning. Sveriges Tandlakarforbund 61(16): 819-825