Chromosome Y polysomy: a non-mosaic 49,XYYYY case.

Abstract:

:Karyotypic abnormalities involving the Y chromosome are common. The clinical spectrum associated with Y chromosome trisomy, tetrasomy or pentasomy is imprecise, as still very few cases have been reported. All cases, however, seem to exhibit some degree of mental retardation and minor facial dysmorphisms. The case we describe is only the fifth reported case of non-mosaic Y tetrasomy. This report and follow-up of a patient, between 4 months and 26 years of age, will certainly be helpful in better characterizing this karyotypic defect.

journal_name

Clin Dysmorphol

journal_title

Clinical dysmorphology

authors

Paoloni-Giacobino A,Lespinasse J

doi

10.1097/01.mcd.0000228423.04908.0c

subject

Has Abstract

pub_date

2007-01-01 00:00:00

pages

65-6

issue

1

eissn

0962-8827

issn

1473-5717

pii

00019605-200701000-00014

journal_volume

16

pub_type

杂志文章,评审
  • Congenital swan neck deformity of fingers with syndactyly.

    abstract::Congenital swan neck deformity of the fingers is an uncommon congenital disorder. It is sporadic and not associated with other malformations. We report a case of congenital swan neck deformity of the fingers in a 16-year-old boy, with associated ulnar deviation of the fingers, bilateral simian creases and soft tissue ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e3282f5280f

    authors: Mandal K,Phadke SR,Kalita J

    更新日期:2008-04-01 00:00:00

  • Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?

    abstract::We report two sibs of consanguineous parents with multiple congenital abnormalities which include prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease and early lethality. We think this constellation of anomalies may ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: al Gazali LI,al Talabani J,Mosawi A,Lytle W

    更新日期:1994-07-01 00:00:00

  • Bilateral congenital longitudinal deficiency of the tibia associated with split hand and atrial septal defect.

    abstract::We present the case of a 17-year-old boy with bilateral tibial hypoplasia and associated split hand and atrial septal defects. These have been reported previously to occur together by other investigators. There were no chromosomal abnormalities and the parents were non-consanguineous. ...

    journal_title:Clinical dysmorphology

    pub_type: 信件

    doi:10.1097/00019605-200401000-00016

    authors: Cerrahoğlu K,Izci Y,Apaydin O,Torun T

    更新日期:2004-01-01 00:00:00

  • A trisomy 2 fetus with severe neural tube defects and other abnormalities.

    abstract::Examination of an abortus from a 13 week miscarriage revealed a fetus of around 9 weeks developmental age with multiple abnormalities including microcephaly, iniencephaly and encephalocele continuous with cervical and thoracic spina bifida, whose karyotype was subsequently shown to be 47,XY, + 2. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200401000-00006

    authors: Seller MJ,Mazzaschi R,Ogilvie CM,Mohammed S

    更新日期:2004-01-01 00:00:00

  • Expanding the phenotype of Filippi syndrome: a report of three cases.

    abstract::This report is of two brothers and a male singleton with clinical characteristics of Filippi syndrome, born to young, healthy, non-consanguineous parents. Their features, which include borderline to milder developmental delay, particularly of speech and language, primary microdontia and previously unreported radiologi...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Walpole IR,Parry T,Goldblatt J

    更新日期:1999-10-01 00:00:00

  • Bowen-Conradi syndrome in non Hutterite infant.

    abstract::The authors' review their experience of Bowen-Conradi syndrome and the available literature. They point out that there have been three previously published reports of possible Bowen-Conradi syndrome in non Hutterite children. ...

    journal_title:Clinical dysmorphology

    pub_type: 评论,信件

    doi:10.1097/00019605-200204000-00017

    authors: Innes AM,Lowry RB

    更新日期:2002-04-01 00:00:00

  • Supernumerary nostrils together with oesophageal atresia and patent ductus arteriosus.

    abstract::Supernumerary nostril is an extremely rare congenital anomaly. It can be unilateral or bilateral and it sometimes occurs in association with other congenital abnormalities. We describe a newborn infant with bilateral supernumerary nostrils together with oesophageal atresia and patent ductus arteriosus, an association ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e3281e668fd

    authors: Numanoglu V,Ermis B,Dursun A,Battal F,Ornek Z,Dogan SM,Ugur B

    更新日期:2007-10-01 00:00:00

  • Facial asymmetry with colon atresia.

    abstract::This case report describes an unusual combination of birth defects in a black South African child presenting with colon atresia, facial symmetry due to facial microsomia and brain abnormalities. The suspected aetiology is thought to be vascular disruption in the late embryonic period. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/01.mcd.0000175604.03221.ad

    authors: Gregersen N

    更新日期:2006-01-01 00:00:00

  • Megalocornea, developmental retardation and dysmorphic features: two further patients.

    abstract::Two unrelated children are described with megalocornea, mild-moderate developmental delay, mild joint laxity and a similar dysmorphic appearance, comprising a bossed forehead, hypertelorism, a saddle-shaped nose and a carp-shaped mouth with prominent lips. Similar abnormalities have been observed in previously reporte...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Gibbs ML,Wilkie AO,Winter RM,Taylor D,Baraitser M

    更新日期:1994-04-01 00:00:00

  • A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.

    abstract::We report on a child with a 'new' syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, bilateral symmetrical digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism of digits I-III. Bec...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-199810000-00003

    authors: Temtamy SA,Meguid NA,Ismail SI,Ramzy MI

    更新日期:1998-10-01 00:00:00

  • Concordance as well as discordance for congenital malformations in valproate-exposed half-siblings with parental consanguinity may indicate a specific gene-teratogen interaction.

    abstract::The possibility of gene-teratogen interaction is suggested in a family formerly reported by Gardner et al. [(2001) Clin Dysmorphol 10:203-208] in which both concordance and discordance exist for congenital malformations in equally valproate-exposed siblings. ...

    journal_title:Clinical dysmorphology

    pub_type: 评论,信件

    doi:10.1097/00019605-200207000-00019

    authors: ten Berg K,Lindhout D

    更新日期:2002-07-01 00:00:00

  • Dysmorphology of Barth syndrome.

    abstract::Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial descrip...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e32832a9e62

    authors: Hastings R,Steward C,Tsai-Goodman B,Newbury-Ecob R

    更新日期:2009-10-01 00:00:00

  • Trigonocephaly and Wilson's disease in two siblings.

    abstract::Trigonocephaly and Wilson's disease (WD) are two different entities. The former is a type of craniosynostosis that occurs because of fusion of the metopic suture and the latter, also called hepatolenticular degeneration, is caused by an accumulation of copper in tissues all over the body because of failure of copper e...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200507000-00013

    authors: Cogulu O,Onay H,Ozgenc F,Karaca E,Gunduz C,Tzetis M,Cankaya T,Kanavakis E,Ozkinay F

    更新日期:2005-07-01 00:00:00

  • Post-axial limb defects with maternal sodium valproate exposure.

    abstract::A male child is described with bilateral talipes equinovarus, absent fibulae with bowing and shortening of the tibiae and facial dysmorphic features. His mother was on a daily dose of 2000 mg sodium valproate for convulsions. This case raises the possibility that postaxial limb defects might be caused by intrauterine ...

    journal_title:Clinical dysmorphology

    pub_type: 信件

    doi:10.1097/00019605-200009020-00015

    authors: Pandya NA,Jani BR

    更新日期:2000-04-01 00:00:00

  • Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face.

    abstract::We report on a 12-month-old boy with pre and post-natal growth retardation, triangular face and mild psychomotor retardation. Karyotyping revealed a supernumerary marker chromosome (SMC) in 36% of cells. Using fluorescence in situ hybridization and BAC clones, the supernumerary marker chromosome was found to be a high...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/01.mcd.0000181605.55382.9a

    authors: Eggermann T,Krause-Plonka I,Wollmann HA,Zerres K,Dai G,Meyer E,Bartsch O

    更新日期:2006-01-01 00:00:00

  • Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?

    abstract::We report two sisters with growth failure, relative microcephaly, peculiar facies and apical dystrophy (brachydactyly type B). They had shortness and clinodactyly of the 5th fingers, aplasia or hypoplasia of the distal phalanges of 5th fingers, short medial phalanges of the 2nd and 5th fingers, hypoplasia or aplasia o...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Ounap K,Justus I,Lipping-Sitska M

    更新日期:1998-01-01 00:00:00

  • Cutis aplasia as a feature of Kabuki syndrome.

    abstract::This case report describes a child with the features of Kabuki syndrome, but with the additional feature of scalp cutis aplasia, which has not been previously described in this syndrome. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/01.mcd.0000204992.92484.5f

    authors: Canham NL

    更新日期:2006-07-01 00:00:00

  • Siblings with Bohring-Opitz syndrome.

    abstract::We describe a brother and sister with Bohring-Opitz syndrome and suggest that autosomal recessive inheritance may occur in this condition. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200301000-00003

    authors: Greenhalgh KL,Newbury-Ecob RA,Lunt PW,Dolling CL,Hargreaves H,Smithson SF

    更新日期:2003-01-01 00:00:00

  • A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype.

    abstract::We report a fetus with atelencephaly, bilateral radial aplasia/hypoplasia, ventriculoseptal defect and megacolon, this combination of anomalies being consistent with the diagnosis of XK-aprosencephaly syndrome. The facial dysmorphology of this fetus differs from that previously reported and together with reports on ov...

    journal_title:Clinical dysmorphology

    pub_type: 信件

    doi:10.1097/00019605-200210000-00015

    authors: Kajantie E,Ammälä P,Salonen R

    更新日期:2002-10-01 00:00:00

  • EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3).

    abstract::Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome associated with a paracentric inversion of chromosome 7 in a 2-year-old Japanese girl is reported. She had sparse and light-brown hair, bilateral cleft lip and palate, fused lower incisors, a pigmented skin lesion at the neck, accessory nipples, limited extensi...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Akita S,Kuratomi H,Abe K,Harada N,Mukae N,Niikawa N

    更新日期:1993-01-01 00:00:00

  • Yunis-Varon syndrome: the first case of German origin.

    abstract::The first case of Yunis-Varon-syndrome in a child of German origin is reported. The child died at the age of 3 months. The literature is reviewed. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Rabe H,Brune T,Rossi R,Steinhorst V,Jorch G,Horst J,Wittwer B

    更新日期:1996-07-01 00:00:00

  • A distinctive overgrowth syndrome with polysyndactyly.

    abstract::We report a female infant with 3-4 syndactyly of the fingers and postaxial polydactyly of all four limbs. She was large at birth and died at the age of 6 months. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Barnicoat A,Salman M,Chitty L,Baraitser M

    更新日期:1996-10-01 00:00:00

  • A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.

    abstract::We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stat...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/01.mcd.0000220605.94413.bb

    authors: Ruiter M,Koolen DA,Pfundt R,de Leeuw N,Klinkers HM,Sistermans EA,Veltman JA,de Vries BB

    更新日期:2006-07-01 00:00:00

  • Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

    abstract::In 1993, Nicolaides and Baraitser reported a new condition consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. We report here two unrelated patients with identical features, thus confirming the status of this rare disorder of unknown aetiology. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章,评审

    doi:10.1097/00019605-200310000-00005

    authors: Morin G,Villemain L,Baumann C,Mathieu M,Blanc N,Verloes A

    更新日期:2003-10-01 00:00:00

  • A familial dysmorphic condition with hypotonia, seizures and precocious puberty.

    abstract::Three siblings are described with a distinct phenotype characterized by dysmorphic facial features, profound hypotonia, seizures and precocious puberty. No cause has been identified in spite of numerous investigations, including array-comparative genomic hybridization at a resolution of 1 Mb. Autosomal recessive inher...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e328302f0c4

    authors: Smith A,Leask K,Tomlin P,Donnai D

    更新日期:2008-07-01 00:00:00

  • Two brothers with severe developmental delay, growth retardation and unusual appearance.

    abstract::We report on two brothers with short stature, severe developmental delay and unusual appearance. Several conditions including the Russell-Silver, Dubowitz, Floating-Harbour and Cockayne syndromes were considered in the differential diagnosis, but subsequently rejected. These two cases are likely to represent a new aut...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200104000-00007

    authors: Lemire EG,Stoeber GP,Anselmo M,Lowry RB

    更新日期:2001-04-01 00:00:00

  • GATAD2B-related intellectual disability due to parental mosaicism and review of literature.

    abstract::GATA zinc finger domain-containing 2B (GATAD2B) encodes p66beta, a subunit of transcription repressor complex methyl-CpG-binding protein-1 histone deacetylase complex/nucleosome remodelling and deacetylase, and mediates gene silencing. Pathogenic variants in GATAD2B are known to cause mental retardation, autosomal dom...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章,评审

    doi:10.1097/MCD.0000000000000288

    authors: Kaur P,Mishra S,Rajesh SM,Girisha KM,Shukla A

    更新日期:2019-10-01 00:00:00

  • Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

    abstract::We report a female child born at 36 weeks of gestation with multiple abnormalities including dysmorphic and coarse facial features with features of mandibulofacial dysostosis that include bilateral microtia with the absence of external auditory meati and Mondini dysplasia as well as, duodenal atresia, intestinal malro...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章,评审

    doi:10.1097/01.mcd.0000198932.09330.33

    authors: Maegawa GH,Chitayat D,Blaser S,Whyte H,Thomas M,Kim P,Kim J,Taylor G,McNamara PJ

    更新日期:2006-10-01 00:00:00

  • Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor.

    abstract::We report two cases with hemifacial microsomia with body asymmetry associated with mosaic trisomies. The child with mosaic trisomy 9 had skin pigmentary changes. In the boy with mosaic trisomy 22, the extra chromosome 22 originated from a maternal meiosis I error. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200110000-00005

    authors: de Ravel TJ,Legius E,Brems H,Van Hoestenberghe R,Gillis PH,Fryns JP

    更新日期:2001-10-01 00:00:00

  • Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.

    abstract::We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypopla...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200101000-00001

    authors: Hoffman HM,Bastian JF,Bird LM

    更新日期:2001-01-01 00:00:00