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
  • Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.

    abstract::Tibial hemimelia is a rare malformation that can be isolated or found with other skeletal abnormalities. We describe a fetus with unilateral tibial aplasia, ipsilateral pre-axial polysyndactyly and femoral hypoplasia, ventriculomegaly, anal atresia and rib and vertebral anomalies. We believe that this combination of m...

    journal_title:Clinical dysmorphology

    pub_type: 信件

    doi:

    authors: Slavotinek A,Clayton-Smith J,Kerr B

    更新日期:1999-07-01 00:00:00

  • Cantu syndrome and lymphoedema.

    abstract::Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as obse...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e32833d015c

    authors: García-Cruz D,Mampel A,Echeverria MI,Vargas AL,Castañeda-Cisneros G,Davalos-Rodriguez N,Patiño-Garcia B,Garcia-Cruz MO,Castañeda V,Cardona EG,Marin-Solis B,Cantu JM,Nuñez-Reveles N,Moran-Moguel C,Thavanati PK,Ramirez-Garcia

    更新日期:2011-01-01 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

  • 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

  • Focal skin defect, limb anomalies and microphthalmia.

    abstract::We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. Growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and limb defects have ...

    journal_title:Clinical dysmorphology

    pub_type: 信件

    doi:10.1097/00019605-200404000-00013

    authors: Morava E,Jackson KE,Andersson HC

    更新日期:2004-04-01 00:00:00

  • Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?

    abstract::Our study aims to delineate the syndromology of Hunter syndrome (MPSII), by presenting three patients with different clinical courses, caused by different genetic mechanisms. Single-nucleotide variants (SNV) or small deletions encompassing the iduronate-2-sulfatase (IDS) gene are identified in the majority of affected...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0000000000000344

    authors: Jezela-Stanek A,Pokora P,Młynek M,Smyk M,Ziemkiewicz K,Różdżyńska-Świątkowska A,Tylki-Szymańska A

    更新日期:2020-12-07 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

  • A case of diencephalic syndrome presenting with isolated lipodystrophy.

    abstract::Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who was referred to a clinical genetics service for investigation of lipodystrophy...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0000000000000235

    authors: McDermott JH,Harris J,Fédée J,Skae M,Semple R,Douzgou S

    更新日期:2018-10-01 00:00:00

  • Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II.

    abstract::We describe the prenatal diagnosis and post mortem findings, including fetal radiographs and bone histology, in a fetus with oto-palato-digital syndrome type II. The differential diagnosis and recurrence risks are discussed. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Eccles DM,Moore IE,Cook S,Griffin DR,Chitty L,Hall CM,Temple IK

    更新日期:1994-04-01 00:00:00

  • Desbuquois syndrome: three further cases and review of the literature.

    abstract::We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pédiatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal recessive inheritance of this condition. The patients p...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章,评审

    doi:

    authors: Gillessen-Kaesbach G,Meinecke P,Ausems MG,Nöthen M,Albrecht B,Beemer FA,Zerres K

    更新日期:1995-04-01 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

  • Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?

    abstract::Two unrelated male patients are described with severe microcephaly, early-onset choreiform movements, cataracts, sensorineural deafness and profound developmental delay. Our patients have much in common with the three male siblings described by Tomiwa et al., who also had cataracts, deafness and developmental delay, b...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200009010-00002

    authors: Plomp AS,Baraitser M,Slaney SF,Winter RM

    更新日期:2000-01-01 00:00:00

  • Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation.

    abstract::In 1993, Suthers et al. reported on a child with an undiagnosed syndrome associating developmental delay, brachycephaly, deafness and cataracts. They discussed the possibility that this child had the same dysmorphic syndrome as the patient reported by Fine and Lubinsky in 1983. Twenty years ago, we examined a very sim...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-199601000-00008

    authors: Aymé S,Philip N

    更新日期:1996-01-01 00:00:00

  • Mild case of Curry-Jones syndrome.

    abstract::The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple beni...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/01.mcd.0000194406.85052.de

    authors: Thomas ER,Wakeling EL,Goodman FR,Dickinson JC,Hall CM,Brady AF

    更新日期:2006-04-01 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

  • Handless, footless fetus.

    abstract::We report a fetus with symmetrical terminal transverse limb deficiency. Two earlier reports described patients with similar defects. These patients resemble the animal models that result from the removal of apical ectodermal ridge. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/01.mcd.0000220612.63025.4b

    authors: Phadke SR,Girisha KM,Dalal A

    更新日期:2006-10-01 00:00:00

  • A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.

    abstract::The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0000000000000117

    authors: Brueggemann FB,Bartsch O

    更新日期:2016-04-01 00:00:00

  • Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders.

    abstract::The objective of our study was to use an established cohort of boys to investigate common patterns of malformations in those with hypospadias. We performed a retrospective review of the phenotype of participants in the Deciphering Developmental Disorders Study with neurodevelopmental delay and an 'Abnormality of the g...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0000000000000275

    authors: Gazdagh GE,Wang C,McGowan R,Tobias ES,Ahmed SF,DDD Study.

    更新日期:2019-07-01 00:00:00

  • A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia.

    abstract::We report on a 15-year-old girl with severe pre- and post-natal growth retardation, poorly muscled build, micrognathia, ulnar ray oligodactyly, absent clavicles, abnormal scapulae, humeroradial fusion, hip dislocation, small iliac wings, slender tubular bones and normal intelligence. An extensive search has failed to ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200107000-00005

    authors: Faivre L,Cormier-Daire V,Geneviève D,Pinto G,Goulet O,Munnich A,Maroteaux P,Le Merrer M

    更新日期:2001-07-01 00:00:00

  • Fetus with unbalanced translocation involving chromosomes 2 and 11.

    abstract::We report a fetus with an unbalanced translocation between chromosomes 2 and 11, the product of a paternal balanced reciprocal translocation, fetal karyotype 46, XX, -11, +der(11)t(2;11) (q35;q24.1)pat. The fetus had unusual facial features. The relevance of this case to mapping of the type I Waardenburg syndrome gene...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Norman AM,Read AP,Clark A,Haslam J,Donnai D

    更新日期:1992-01-01 00:00:00

  • Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation.

    abstract::18p deletion syndrome can be easily missed in a clinical setting as the facial features, though typical, can be overlooked and the other features including growth retardation and learning disability are nonspecific. We present a family in which the proband has 18p deletion syndrome. The proband performed better on ver...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e328343b9b9

    authors: Koshy B,Mandal K,Srivastava VM,Loius PT,Danda S

    更新日期:2011-07-01 00:00:00

  • The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

    abstract::Dermatosparaxis (Ehlers-Danlos syndrome type VIIC) has only recently been identified in human subjects. Although well documented in animals, to date only three human cases have been recorded, all aged 2 years or under. We document a 15-year-old girl with this newly recognized condition to emphasize the remarkable simi...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章,评审

    doi:

    authors: Reardon W,Winter RM,Smith LT,Lake BD,Rossiter M,Baraitser M

    更新日期:1995-01-01 00:00:00

  • On the association of Poland anomaly and primary microcephaly.

    abstract::In this report we describe a moderately mentally retarded female child with the association of Poland's anomaly and primary microcephaly with marked neuronal migration disturbances, cortical atrophy and white substance hypoplasia. This observation further supports the suggestion that the subclavian artery supply disru...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Fryns JP,de Smet L

    更新日期:1994-10-01 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

  • Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.

    abstract::Overgrowth syndromes with complex vascular anomalies pose a challenge for diagnosis and management. The purpose of this descriptive study is to present a cohort of patients with congenital lipomatous overgrowth, vascular malformations, and epidermal nevi syndrome, a distinct clinical phenotype characterized by a compl...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e328317a716

    authors: Alomari AI

    更新日期:2009-01-01 00:00:00

  • Chondrodysplasia punctata: a clinical diagnostic and radiological review.

    abstract::Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. Several classification systems of the different types of CDP have been suggested earlier. More recently, the bioche...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章,评审

    doi:10.1097/MCD.0b013e3282fdcc70

    authors: Irving MD,Chitty LS,Mansour S,Hall CM

    更新日期:2008-10-01 00:00:00

  • Pili bifurcati: occurring in association with the mosaic trisomy 8 syndrome.

    abstract::The trisomy 8 mosaic syndrome may present in many different ways. We present a rare hair anomaly in a patient with this syndrome. ...

    journal_title:Clinical dysmorphology

    pub_type: 信件

    doi:

    authors: Breslau-Siderius LJ,Beemer FA,Boom BW

    更新日期:1996-07-01 00:00:00

  • Isolated macrodystrophia lipomatosa of the foot in a neonate: a case report.

    abstract::Macrodystrophia lipomatosa characterized by enlargement of one or more fingers or toes with predominantly fibroadipose tissue can be part of an overgrowth syndrome such as Proteus syndrome (Biesecker, 2006) or CLOVES syndrome (Sapp et al., 2007; Alomari, 2009) or found as an isolated abnormality in an otherwise normal...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e32834cef46

    authors: Guzoglu N,Gokmen T,Oguz SS,Fitoz S,Dilmen U

    更新日期:2012-01-01 00:00:00

  • Bilateral cleft lip and palate, hypertelorism and hypoplastic toes.

    abstract::We report on a 23-month-old boy with bilateral cleft lip and palate, marked hypertelorism, frontal bossing and severe bilateral, asymmetric hypoplasia of toes. The mother used bisoprolol, naproxen and sumatriptan for migraine until the fifth postmenstrual week of pregnancy. We suggest that this patient's features repr...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/01.mcd.0000133499.91871.52

    authors: Kajantie E,Somer M

    更新日期:2004-07-01 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