Van Bon, B.W., Mefford, H.C., Menten, B., Sharp, A.J., Nillesen, W.M., Innis, J.W., ...
Background: recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental retardation and epilepsy....
Barber, J.C., Maloney, V.K., Huang, S., Bunyan, D.J., Cresswell, L., Kinning, E., ...
The 8p23.1 deletion syndrome is established but not an equivalent duplication syndrome. Here, we report five patients; a de novo prenatal case and two families in which 8p23.1 duplications have been...
Repetitive DNA and chromosomal rearrangements: speciation-related events in plant genomes (2008)
Raskina, O., Barber, J.C., Nevo, E., Belyayev, A.
Chromosomal change is one of the more hotly debated potential mechanisms of speciation. It has long been argued over whether--and to what degree--changes in chromosome structure contribute to...
Fickelscher, I., Liehr, T., Watts, K., Bryant, V., Barber, J.C., Heidemann, S., ...
Human chromosome 2 contains large blocks of segmental duplications (SDs), both within and between proximal 2p and proximal 2q, and these may contribute to the frequency of the common variant...
Barber, J.C., Maloney, V.K., Bewes, B., Wakeling, E.
A novel transmitted 2-3 Mb deletion of 2q14.1-q14.2 was found in an affected boy from a consanguineous family with a possible diagnosis of PEHO syndrome (OMIM 260565). BAC FISH showed that the...
Barber, J.C., Zhang, S., Friend, N., Collins, A.L., Maloney, V.K., Hastings, R., ...
Extra euchromatic material was found within the major heterochromatic block of chromosome 16 (16qh) in one de novo case and seven members of two families. In contrast to the euchromatic variants of...
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants (2005)
In total, 200 families were reviewed with directly transmitted, cytogenetically visible unbalanced chromosome abnormalities (UBCAs) or euchromatic variants (EVs). Both the 130 UBCA and 70 EV families...
Barber, J.C., Thomas, N.S., Collinson, M.N., Dennis, N.R., Liehr, T., Weise, A., ...
Segmental aneuploidy usually has phenotypic consequences but unbalanced rearrangements without phenotypic consequences have also been reported. In particular, harmless deletions of G-dark bands 5p14...
Barber, John C.K., Maloney, Viv, Hollox, Edward J., Stuke-Sontheimer, Annegret, Du Bois, Gabi, Daumiller, Eva, ...
It has been proposed that duplications of 8p23.1 are either euchromatic variants of the 8p23.1 defensin domain with no phenotypic consequences or true duplications associated with developmental delay...
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants (2005)
In total, 200 families were reviewed with directly transmitted, cytogenetically visible unbalanced chromosome abnormalities (UBCAs) or euchromatic variants (EVs). Both the 130 UBCA and 70 EV families...
Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster (2003)
Hollox, E.J., Armour, J.A., Barber, J.C.
Using a combination of multiplex amplifiable probe hybridization and semiquantitative fluorescence in situ hybridization (SQ-FISH), we analyzed DNA copy number variation across chromosome band...
Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster (2003)
Hollox, E. J., Armour, J. A., Barber, J. C.
Using a combination of multiplex amplifiable probe hybridization and semiquantitative fluorescence in situ hybridization (SQ-FISH), we analyzed DNA copy number variation across chromosome band...
Absence of 22q11 deletions in 211 patients with developmental delay analysed using PCR (2002)
Waite, S.J., Thomas, N.S., Barber, J.C.
The 22q11 deletion syndrome has been described by the acronym "CATCH 22" (Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcaemia resulting from 22q11 deletions)....
A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities (2001)
An imbalance of genetic material, especially monosomy, will usually give rise to an abnormal phenotype. A few instances of proximal 2q deletions have been published, but previous cases (q12-q14,1...
Human fibroblast interferon in tears of patients with picornavirus epidemic conjunctivitis.
Langford, M P, Yin-Murphy, M, Ho, Y M, Barber, J C, Baron, S, Stanton, G J
We report the levels of coxsackievirus type A24 (CA24) and the levels and type of interferon produced early during naturally acquired picornavirus epidemic conjunctivitis. Virus levels ranging from...
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
Browne, C E, Dennis, N R, Maher, E, Long, F L, Nicholson, J C, Sillibourne, J, ...
We present the cytogenetic, molecular cytogenetic, and molecular genetic results on 20 unrelated patients with an interstitial duplication of the proximal long arm of chromosome 15. Multiple probes...
Human fibroblast interferon in tears of patients with picornavirus epidemic conjunctivitis.
Langford, M P, Yin-Murphy, M, Ho, Y M, Barber, J C, Baron, S, Stanton, G J
We report the levels of coxsackievirus type A24 (CA24) and the levels and type of interferon produced early during naturally acquired picornavirus epidemic conjunctivitis. Virus levels ranging from...
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.
Browne, C E, Dennis, N R, Maher, E, Long, F L, Nicholson, J C, Sillibourne, J, ...
We present the cytogenetic, molecular cytogenetic, and molecular genetic results on 20 unrelated patients with an interstitial duplication of the proximal long arm of chromosome 15. Multiple probes...
Fatal disseminated cryptococcosis following intraocular involvement.
Schulman, J A, Leveque, C, Coats, M, Lawrence, L, Barber, J C
A 33-year-old man was treated with systemic steroids for a retinal inflammatory lesion before the diagnosis of cryptococcal retinitis and meningitis was suspected. He died from central nervous system...
Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.
Brueton, L A, Barber, J C, Huson, S M, Winter, R M
We describe the clinical and cytogenetic findings in a boy with an unbalanced karyotype involving monosomy for 3q27-q29. He does not resemble other reported cases of del(3q). Deletions of the long...
Flynn, G A, Hirst, M C, Knight, S J, Macpherson, J N, Barber, J C, Flannery, A V, ...
Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA...
A de novo X;13 translocation with abnormal phenotype.
Hodgson, S V, Barber, J C, Dowie, A, Dubowitz, V
We describe a female infant who presented with hypotonia and developmental delay. Her karyotype showed a de novo balanced translocation between the X chromosome and chromosome 13, with breakpoints at...
Barber, J C, Ellis, K H, Bowles, L V, Delhanty, J D, Ede, R F, Male, B M, ...
We present the clinical and laboratory findings in an institutionalised adult patient originally referred for autism. A high risk of colorectal cancer was predicted when an interstitial deletion of...
Diaphragmatic herniae and translocations involving 8q22 in two patients.
Temple, I K, Barber, J C, James, R S, Burge, D
Two girls with congenital diaphragmatic herniae are reported. Both were discovered to have a balanced reciprocal translocation involving 8q22.3. In one girl the translocation was de novo, in the...
Joyce, C A, Zorich, B, Pike, S J, Barber, J C, Dennis, N R
Fluorescence in situ hybridisation (FISH) and conventional chromosome analysis were performed on a series of 52 patients with classical Williams-Beuren syndrome (WBS), suspected WBS, or supravalvular...
Power, M M, James, R S, Barber, J C, Fisher, A M, Wood, P J, Leatherdale, B A, ...
Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, obesity, and mental retardation. Variable biochemical...
Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.
Barber, J C, Joyce, C A, Collinson, M N, Nicholson, J C, Willatt, L R, Dyson, H M, ...
We present seven families with a cytogenetic duplication of the short arm of chromosome 8 at band 8p23.1. The duplication has been transmitted from parents to offspring in four of the seven families....
Swerdlow, A. J., Jacobs, P. A., Marks, A., Maher, E. J., Young, T., Barber, J. C., ...
Reproductive outcomes and health of offspring were investigated in 340 patients with Hodgkin's disease first treated at Mount Vernon Hospital, Middlesex, England, at ages under 40 (females) or 45...