The phenotype of ring chromosome 3.
G N Wilson,J Pooley,J Parker +2 more
TLDR
A male child with mental retardation and poor growth was found to have a 46,XY,r3 (p26 leads to q29) karyotype in 92% of his peripheral lymphocytes and 90%" of his cultured fibroblasts.Abstract:
A male child with mental retardation and poor growth was found to have a 46,XY,r3 (p26 leads to q29) karyotype in 92% of his peripheral lymphocytes and 90% of his cultured fibroblasts. Comparison of this patient's dysmorphic features with previously reported cases of ring 3 or deletion 3p suggests a clinical syndrome derived mainly from deletion of 3p26 leads to pter. The syndrome consists of mental retardation, pre- and postnatal growth retardation, microcephaly, hypertonia, digital anomalies, and a characteristic facies with ptosis, epicanthal folds, broad nasal root, down-turned corners of the mouth, and dysplastic ears.read more
Citations
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In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules.
Ming Hui Wei,Irina Karavanova,Sergey Ivanov,Nicolae C. Popescu,Catherine L. Keck,Svetlana Pack,Jonathan A. Eisen,Michael I. Lerman +7 more
TL;DR: Molecular analysis of a cDNA isolate showed that it is encoded by a chromosome 3p26 locus and is a novel member of the L1 gene family of neural cell adhesion molecules, and multiple lines of evidence suggest it is likely the human ortholog of the murine gene CHL1.
Journal ArticleDOI
Further delineation of the dup(3q) syndrome
TL;DR: A characteristic face with hirsutism, synophrys, broad nasal root, anteverted nares, downturned corners of the mouth, micrognathia, and malformed ears recognizable even in the 30-week fetus and distinct from that of the Brachmann-de Lange syndrome is defined.
Journal ArticleDOI
Wolf-Hirschhorn (4p-) syndrome.
TL;DR: The parents of a child who has Wolf-Hirschhorn (4p-) Syndrome would like to make contact with parents of other children with this condition in order to provide mutual support and to share information.
Journal ArticleDOI
Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.
Kouji Narahara,Kiyoshi Kikkawa,Masae Murakami,Kei Hiramoto,Hiroshi Namba,Kazushiro Tsuji,Yuji Yokoyama,Hiroshi Kimoto +7 more
TL;DR: Karyotype-phenotype comparisons in the present cases and 16 previously reported cases with deficiency of the distal portion of 3p suggests that deficiency ofThe 3p25.3 band is critical to produce the main clinical manifestations of the del(3p) syndrome.
Journal ArticleDOI
Autosomal ring chromosomes in human genetic disorders
TL;DR: Familial transmission of rings from carrier to offspring has been described and prenatal diagnosis for any pregnancies should always be considered, of interest is ring chromosome 20 which has a significant association with epilepsy with seizure onset in early childhood.
References
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Journal ArticleDOI
Human Q and C chromosomal variations: distribution and incidence
TL;DR: It is evident from this study that the magnitude of chromosomal variation in human populations is far greater than heretofore believed and the combination of Q- and C-banding procedures will yield much more information than either technique used alone and is therefore the preferred approach to many population and gene localization studies.
Journal Article
Pericentric inversions of human chromosomes 9 and 10.
de la Chapelle A,Schröder J,Stenstrand K,Johan Fellman,Riitta Herva,Saarni M,Anttolainen I,Tallila I,Tervilä L,Husa L,Tallqvist G,E B Robson,P J Cook,Ruth Sanger +13 more
Journal ArticleDOI
Deletions of different segments of the long arm of chromosome 4.
Joyce A. Mitchell,Joyce A. Mitchell,Seymour Packman,William D. Loughman,Robert M. Fineman,Elaine H. Zackai,Shivanand R. Patil,Beverly S. Emanuel,James A. Bartley,James W. Hanson,John M. Opitz +10 more
TL;DR: The clinical and chromosomal findings in 8 patients with deletions of the long arm of chromosome 4.3 confirm that deletion of 4q31 leads to qter causes a recognizable syndrome, and further define the phenotype of that syndrome.
Journal ArticleDOI
The dup(3q) syndrome: report of eight cases and review of the literature.
Peter Steinbach,William N. Adkins,H. Caspar,K. W. Dumars,J. Gebauer,Gilbert Ef,T. Grimm,M. Habedank,Ingo Hansmann,J. Herrmann,E. G. Kaveggia,U. Langenbeck,Lorraine F. Meisner,T. M. Najafzadeh,J. M. Opitz,Catherine G. Palmer,H. H. Peters,W. Scholz,A. S. Tavares,C. Wiedeking,John M. Opitz +20 more
TL;DR: A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down-turned corners of the mouth, and congenital heart disease.
Journal Article
Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).
TL;DR: The existence of a distinct chromosome 3 duplication-deletion syndrome is postulated based on close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3), and 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers.