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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Same entry as in 0Xq21.32 (Waters et al, 2001).
- Baumer A, Dutly F, Balmer D, Riegel M, Tukel T, Krajewska-Walasek M, Schinzel A A.: High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions. Hum. Mol. Genet. 7:887-894, 1998. [PubMed: 9536094]22 patients with Williams-Beuren syndrome were studied.11 each were of maternal and paternal origin.Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Unequal meiotic crossing-over,Williams-Beuren syndrome
- Beunders G, van de Kamp J M, Veenhoven R H, van Hagen J M, Nieuwint A W M, Sistermans E A.: A triplication of the Willimas-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms. J. Med. Genet. 47: 271-275, 2010. [PubMed: 19752158]Aberration: TRIPChromosomal Aneuploidy: 7q+Index Terms: Willimas-Beuren syndrome
- Beunders G, van de Kamp J M, Veenhoven R H, van Hagen J M, Nieuwint A W M, Sistermans E A.: A triplication of the Willimas-Beuren syndrome region in a patient with mental retardation, as ever expressive language delay, behavioural problems and dysmorphisms. J. Med. Genet. DOI=10.1136/jmg.2009.070490, 2009. [PubMed: 19752158]The patient was 38 months old.The triplication proven to be de novo.Aberration: TRIPLICATIONChromosomal Aneuploidy: 7q+Index Terms: Williams-Beuren syndrome,Triplication
- Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, Osborne L R, Digilio M C, Giannotti A, Dallapiccola B.: Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. J. Med. Genet. 36:478-480, 1999. [PMC free article: PMC1734394] [PubMed: 10874638]2/50 patients were found to have an atypical deletion. Patients A, a6 year old girl, and B, a 2 year old male.46,XX or XY,del(7)(q11.23). The deleted region spans from the elastin gene to D7S1870.Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-
- Brondum-Nielsen K, Beck B, Gyftodimou J, Horlyk H, Liljenberg U, Petersen M B, Pedersen W, Petersen M B, Sand A, Skovby F, Stafanger G, Zetterqvist P, Tommerup N.: Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. Hum. Genet. 99:56-61, 1997. [PubMed: 9003495]44 patients were studied.24 were found to have deletions. ELN intron 17, ELN exon 20, D7S1870, and D7S489 probes were used.Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Williams-Beuren syndromeNegative band
- Burns J P, Koduru P R K, Alonso M L, Chaganti R S K: Analysis of meiotic segregation in a man heterozygous for two reciprocal translocations using the hamster in vitro penetration system. AJHG 38:954-964, 1986. [PMC free article: PMC1684860] [PubMed: 3728467]A three generation family in which the translocations were segregating is reported.Proband: 46,XY,t(5;11)(p13;q23.2),t(7;14)(q11.23;q24.1).&"46,XX,t(7;14)(q11.23;q24.1),del(5)(p13 -> pter)."&"46,XY,t(7;14)(q11.23;q24.1)."Aberration: Reciprocal translocationNegative band
- Cheng E Y, Chen Y J, Disteche C M, Gartler S M.: Analysis of a paracentric inversion in human oocytes: nonhomologous pairing in pachytene. Hum. Genet. 105:191-196, 1999. [PubMed: 10987644]46,XX,inv(7)(q11.23q21.2)de novoOvaries were collected from a 19-week terminated fetus.Aberration: Inversion paracentric
- del Rio T, Urban Z, Csiszar K, Boyd C D.: A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome. Clin. Genet. 54:129-135, 1998. [PubMed: 9761391]Mother (I-2) of the proband (II-2)=46,XX,t(7;11)(q34;q13)Prenatal diagnosis of II-4, a first cousin, was successfully accomplished for WS.Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-
- Dewan K, Borgaonkar D S, Bartoshesky L E, Tuttle D.: Micro-deletion detected by fluorescent in situ hybridization for Williams syndrome. Del. Med. J. 71:467-469, 1999. [PubMed: 10615798]Baby boy R:46,XY.ish del(7)(q11.23)Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Williams syndrome-FISHNo band
- Duba H-C, Doll A, Neyer M, Erdel M, Mann C, Hammerer I, Utermann G, Grzeschik K-H.: The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Willimas-beuren syndrome. Europ. J. Hum. Genet. 10:351-361, 2002. [PubMed: 12080386]46,XX and XY,t(7;16)(q11.23;q13)Three generation family was investigated.Aberration: Reciprocal translocationMIM#: 194050Index Terms: Williams-Beuren syndrome
- Elcioglu N, Mackie-Ogilvie C, Daker M, Berry A C.: FISH analysis in patients with clinical diagnosis of Williams syndrome. Acta Paediat. 87:48-53, 1998. [PubMed: 9510447]14/16 patients were found to have the deletion of the elastin gene ie hemizygosity at the locus.
Wang M S, Schinzel A, Kotzot D, Balmer D, Casey R, Chodirker B N, Gyftodimou J, Petersen M B, Lopez-Rangel E, Robinson W P.: Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. AJMG 86:34-43, 1999. [PubMed: 10440826]Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Williams syndrome - Ferrero G B, Howald C, Micale L, Biamino E, Augello B, Fusco C, Turturo M G, Forzano S, Reymond A, Merla G.: An atypical 7q11.23 deletion in a normal IQ Willimas-Beuren syndrome patient. Europ. J. Hum. Genet. 18: 33-38, 2010. [PMC free article: PMC2987159] [PubMed: 19568270]Patient WBS207: !! years old.1.55 Mb deletion spanning 28 genes.Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Williams-Beuren syndrome
- Fryns J P, Kleczkowska A, Van den Berghe H: Paracentric inversions in man. Hum. Genet. 73:205-213, 1986. [PubMed: 3733076]Family No 15.46,XX or XY,inv(7)(q1123q221)mat.Aberration: Inversion paracentricNegative band
- Gagliardi C, Bonaglia M C, Selicorni A, Borgatti R, Giorda R.: Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion. J. Med. Genet. 40:526-530, 2003. [PMC free article: PMC1735517] [PubMed: 12843326]The patient is 5 years old.The authors suggest that deletion of CYLN2 may cause cognitive impairment.The deletion ranges from the centromeric common breakpoint region to beyond marker D7S613 and includes elastin (ELN), LIMK1, and at least a portion of CYLN2.Aberration: Interstitial deletionMIM#: 194050,603432Chromosomal Aneuploidy: 7q-Index Terms: Williams syndrome (WS),CYLN2
- Hirota H, Matsuoka R, Kimura M, Imamura S I, Joh-o K, Ando M, Takao A, Momma K.: Molecular cytogenetic diagnosis of Williams syndrome. AJMG 64:473-477, 1996. [PubMed: 8862624]32 patients and 30 of their relatives were studied.Hemizygosity for a region of 7q11.23 involving the elastin gene was found in all the patients and none of the relatives.Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Williams syndrome ... 7q hemizygosityNegative band
- Jalal S M, Crifasi P A, Karnes P S, Michels V V.: Cytogenetic testing for Williams syndrome. Mayo Clin. Proc. 71: 67-68, 1996. [PubMed: 8538237]6/20 patients tested positive for WSCR by FISH using an Oncor probe for the elastin gene.Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Williams syndromeNegative band
- Joyce C A, Zorich B, Pike S J, Barber J C K, Dennis N R.: Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. J. Med. Genet. 33:986-992, 1996. [PMC free article: PMC1050807] [PubMed: 9004128]22/23 (96%) had the elastin gene locus deletion.Aberration: Interstitial deletionMIM#: 130160,194050Chromosomal Aneuploidy: 7q-Index Terms: Williams-Beuren syndromeNegative band
- Lichtenbelt K D, Hochstenbach R, van Dam W M, Eleveld M J, Poot M, Beemer F A.: Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype. AJMG 132A:93-100, 2005. [PubMed: 15580634]47,XX,+r(?).ish r(7)(q10q11.23)(wcp+,D7Z1+,D7S520+,ELN+,LIMK1+,D7S613+,D7S659/499-,D7S494-)[50]/46,XX[50].The 4 year old patient had severe retardation of expressive speech development.It was stated that the r(7) chromosome was of maternal origin.Aberration: Ring chromosomeMIM#: 130160,601329Chromosomal Aneuploidy: 7q+Index Terms: SMC
- Lowery M C, Morris C A, Ewart A, Brothman L J, Zhu X L, Leonard C O, Carey J C, Keating M, Brothman A R.: Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. AJHG 57:49-53, 1995. [PMC free article: PMC1801249] [PubMed: 7611295]Cytogenetic analyses did not show any deletions in the 7q11.23 region. However, FISH with cosmids cELN-11D and cELN-272 showed the interstitial deletions.Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Williams syndrome ... ElastinNegative band
- McElveen C, Carvajal M V, Moscatello D, Towner J, Lacassie Y.: Ectrodactyly and proximal/intermediate deletion 7q. AJMG 56:1-5, 1995. [PubMed: 7747769]46,XX,del(7)(q11.23q22).The 36-year-old patient was severely retarded and had cleft feet and cleft right hand along with other dysmorphic features.Aberration: Interstitial deletionMIM#: 129900Chromosomal Aneuploidy: 7q-Index Terms: EctrodactylyNegative band
- Merla G, Howald C, Henrichsen C N, Lyle R, Wyss C, Zabot M-T, Antonarakis S E, Reymond A.: Submicroscopic deletion in patients with Willimas-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. AJHG 79:332-341, 2006. [PMC free article: PMC1559497] [PubMed: 16826523]
Metcalfe K.: Williams syndrome: an update on clinical and molecular aspects. Arch. Dis. Childhood 81:198-200, 1999. [PMC free article: PMC1718081] [PubMed: 10451389]
Tassabehji M, Metcalfe K, Fergusson W D, Carette M J A, Dore J K, Donnai D, Read A P, Proschel C, Gutowski N J, Xin M, Sheer D. : LIM-kinase deleted in Williams syndrome. Nature Genet. 13:272-273, 1996. [PubMed: 8673124]20 patients with WS showed that they have one copy of the elastin and LIMK genes.
Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette M J, Grant J, Dennis N, Reardon W, Splitt M, Read A P, Donnai D.: Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. AJHG 64:118-125, 1999. [PMC free article: PMC1377709] [PubMed: 9915950]The 1999 report indicate that neither LIMK1 hemizygosity nor STX1A is likely to contribute to any part of the WS phenotype.Aberration: Interstitial deletionChromosomal Aneuploidy: 7q-Index Terms: Williams syndrome,LIM-kinaseNegative band - Mervis C B, Robinson B F, Pani J R.: Cognitive and behavioral genetics ''99. Visuospatial construction. AJHG 65:1222-1229, 1999. [PMC free article: PMC1288273] [PubMed: 10521286]84 individuals with Williams syndrome were tested. 56 of these fit in the WS cognitive profile, and 36 had the deletion of 7q11.23.del(7)(q11.23)It is pointed that individual differences in visuospatial construction are also found for individuals in Williams syndrome, however, the range is restricted to the lower part of the normal range, or, in most cases, below the bottom of the normal range.Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-
- Mizugishi K, Yamanaka K, Kuwajima K, Kondo I.: Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J. Hum. Genet. 43:178-181, 1998. [PubMed: 9747030]46,XY,del(7)(q11.23->q21.11)de novo,.ish del(7)(ELN,D7S1870,D7S2490,D7S2518,D7S2421x1)The patient was 4 years old with WS and infantile spasms.These authors suggest "a gene responsible for infantile spasms is located n the 2.7-cM interval between loci D7S1870 and D7S675.Aberration: Interstitial deletionMIM#: 194050,130160Chromosomal Aneuploidy: 7q-Index Terms: Williams syndrome
- Molina O, Anton E, Vidal F, Blanco J.: Sperm rates of 7q11.23, 15q11q13 and 22q112. deletions and duplications: a FISH approach. Hum. Genet. 129: 35-44;, 2011. [PubMed: 20931230]It is suggested that the mechanisms of the formation of deletions and duplications seem to be caused by inter-chromatid exchange events.Aberration: ID,DUChromosomal Aneuploidy: 7q-; 7q+; 15q-; 15q+; 22q112-
- Curran M E, Atkinson D L, Ewart A K, Morris C A, Leppert M F, Keating M T.: The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73:159-168, 1993. [PubMed: 8096434]
Morris C A, Loker J, Ensing G, Stock A D: "Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene." AJMG 46:737-744, 1993. [PubMed: 8362925]Patient was 3.5 years old.&"46,XX and XY,der(6)der(7)t(6;7)(p21.1;q11.23)mat and pat."A four generation family is reported.Aberration: Reciprocal translocationMIM#: 130160,185500Index Terms: Williams syndrome,Elastin,Supravalvular aortic stenosisNegative band - Orellana C, Bernabey J, Monfort S, Rosello M, Oltra S, Ferrer I, Quiroga R, Martinez-Garay I, Martinez F.: Duplication of the Willimas-Beuren critical region: case report and further delineation of the phenotypic spectrum. J. Med. Genet. 45: 1870189, 2008. [PubMed: 18310268]The 13 year old, offspring of second cousins, was being evaluated for polymalformation syndrome and MR.Aberration: DuplicationMIM#: 194050Chromosomal Aneuploidy: 7q+Index Terms: Willimas-Beuren syndrome (WBS)
- Osborne L, Pober B.: Genetics of Childhood disorders: XXVII. Genes and cognition in Williams syndrome. J. Am. Acad. Child and Adolesc. Psychiat. 40:732-735, 2001. [PubMed: 11392353]
Safer, Morley: A very special brain-Williams syndrome. 60 minutes II January 7, 2004.Obviuosly, I was much impressed by this documentary TV show on individuals with WS. The performance by several of these patients was just worth documenting in this unusual citation in this database. Hopefully, we will understand the mechanisms involved as research progresses in this and other conditions.
Scherer S W, Gripp K W, Lucena J, Nicholson L, Bonnefont J-P, Perez-Jurado L, Osborne L R. : Observation of a parental inversion variant in a rare Willimas-Beuren syndrome family with two affected children. Hum. Genet. DOI=10.1007/s00439-005-1325-9; 117:383-388, 2005. [PMC free article: PMC2896963] [PubMed: 15933846]Family H:inv(7)(q11.23).WBSinv-1 is an inversion polymorphism frequently occurring in parents of individuals with WBS, predisposing a deletion in the region on 7q11.23.Aberration: ID,IPMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Williams syndrome (WBS),WBSinv-1 - Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M.: Familial Williams-Beuren syndrome. AJMG 80:491-493, 1998. [PubMed: 9880214]Patient A.L. and his mother T.L.Patient=46,XY.ish del(7)(ELN Oncor P5155-).Aberration: Interstitial deletionMIM#: 194050,130160Chromosomal Aneuploidy: 7q-Index Terms: Williams-Beuren syndromes
- Perez Jurado L A, Peoples R, Kaplan P, Hamel B C J, Francke U.: Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. AJHG 59:781-792, 1996. [PMC free article: PMC1914804] [PubMed: 8808592]The breakpoint cluster is around ELN, elastin gene, between D7S489B and D7S1870 of about 2cM. All deletions were de novo; 18 paternal (and associated with statural growth) and 21 maternal ( and associated with severe growth retardation and microcephaly).
Urban Z, Helms C, Fekete G, Csiszar K, Bonnet D, Munnich A, Donis-Keller H, Boyd C D.: 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. AJHG 59:958-962, 1996. [PMC free article: PMC1914803] [PubMed: 8808614]Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Williams syndromeNegative band - Portera G, Venturin M, Patrizi A, Martinoli E, Riva P, Dalpra L.: Characterisation of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams-Beuren syndrome region in chromosomal rearrangements. J. Hum. Genet. DOI=10.1007/s10038-005-0326-9; 51: 68-75, 2005; 2006. [PubMed: 16328081]46,XX,der t(7;9)(q11.23;p24.3)mat.The proband had six early spontaneous abortions, had one 13 year old showing the same translocation. Aubsequent pregnancy resulted ina stillborn after 30 weeks.The chromosome 7 breakpoint falls inside the gene GENSCAN00000067131.Aberration: Reciprocal translocationMIM#: 185500Index Terms: Williams-Beuren syndrome
- Ramocki M B, Bartnik M, Szafranski P, Kolodziejska K E, Xia Z, Bravo J, Miller G S, Rodriguez D L, Willimas C A, Bader P I, Szczepanik E, MazurczakT, Antczak-Marach D, Coldwell J G, Akman C I, McAlmonK, Cohen M P, McGrath J, Roeder E, Mueller J, Kang S-H L, Bacino C A, Patel A, Bocian E, Shaw C A, Cheung S W, Mazurczak T, Stankiewicz P.: Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. AJHG 87: 857-865, 2010. [PMC free article: PMC2997378] [PubMed: 21109226]Aberration: Interstitial deletionChromosomal Aneuploidy: 7q-Index Terms: Epilepsy
- Tajara E H, Varella-Garcia M, Gusson A C T: Interstitial long-arm deletion of chromosome 7 and ectrodactyly. AJMG 32:192-194, 1989. [PubMed: 2929660]46,XY,del(7)(pter -> q11.23::q22 -> qter), fra(17).The newborn child was found to have microcephaly, convergent strabismus, micrognathia, genital anomalies and ectrodactyly.Aberration: Interstitial deletionChromosomal Aneuploidy: 7q-Index Terms: EctrodactylyNegative band
- Vermeulen S, Menten B, Van Roy N, Van Limbergen H, De Paepe A, Mortier G, Speleman F.: Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints. AJMG DOI=10.1002/ajmg.a.20378; 124A:10-18, 2003 and 2004. [PubMed: 14679581]Aberration: CT,RT,ST
- Wang Y T, Bajalica S, Han F Y, Wang Z C, Bui T H, Xie Y G: Direct and inverted reciprocal chromosome insertions between chromosomes 7 and 14 in a woman with recurrent miscarriages. AJMG 52:349-351, 1994. [PubMed: 7810568]46,XX,inv ins(7;14)(7pter->7q11.23::14q32.2->14q22::7q21.2->7qter),dir ins(14;7)(14pter->14q22::7q11.23->7q21.2::14q32.2->14qter)mat.There were five miscarriages in a nine year period with the same partner for this 33 year old woman.Aberration: Inverted insertions between chromosomesIndex Terms: MiscarriageNegative band
- Wouters C H, Meijers-Heijboer H J, Eussen B J F M M, van der Heide A A, van Luijk R B, van Drunen E, Beverloo B B, Visscher F, Van Hemel J O.: Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome. AJMG 102:261-265, 2001. [PubMed: 11484204]Additional material at 7q36 consisted of satellite from 22.Aberration: ST,IDMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Williams syndromeNo band
- Wu Y-Q, Sutton V R, Nickerson E, Lupski J R, Potocki L, Korenberg J R, Greenberg F, Tassabehji M, Shaffer L G.: Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. AJMG 78:82-89, 1998. [PubMed: 9637430]68 individuals with WS were studied.The minimal deleted region is about 2Mb.Aberration: Interstitial deletionMIM#: 194050Chromosomal Aneuploidy: 7q-Index Terms: Williams syndrome
- 07q1123 - Chromosomal Variation in Man07q1123 - Chromosomal Variation in Man
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