Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism.


:When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. We present a boy who was prenatally diagnosed by amniocentesis as having trisomy 9 mosaicisim but who had normal G-banding results on postnatal blood karyotyping; the patient also exhibited multiple malformations, including a diaphragmatic hernia, arthrogryposis, undescended testes, and characteristic facies. Because of the discrepancy between the phenotype and karyotype, we repeated the chromosomal studies on multiple occasions. Interphase FISH performed on abdominal wall muscle tissue revealed a mosaic trisomy 9 karyotype: 47,XY, + 9(159)/46,XY (19). Based on these findings, we finally diagnosed the patient as having trisomy 9 mosaicism and counseled the parents that the risk of recurrence was low. We conclude that it is important to be aware of the possibility that the patient can have a normal postnatal blood karyotype and an abnormal phenotype with multiple malformations when trisomy 9 mosaicism is detected prenatally. When the baby's phenotype is abnormal, karyotyping on multiple tissues is useful for confirming clinical impression as well as determining the prognosis and providing accurate genetic counseling.


Congenit Anom (Kyoto)


Congenital anomalies


Kosaki R,Hanai S,Kakishima H,Okada MA,Hayashi S,Ito Y,Takahashi T,Kosaki K,Okuyama T




Has Abstract


2006-06-01 00:00:00














  • Studies on preliminary concentration methods for recovery of fetal nucleated red blood cells in maternal blood.

    abstract::Non-invasive prenatal diagnostic methods posing no danger to the embryo have been desired for many years in the field of prenatal medicine. We are in the process of improving the lectin method that we developed for recovering fetus-derived nucleated red blood cells (NRBC) in the maternal peripheral blood. We previousl...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Wachi T,Kitagawa M

    更新日期:2004-12-01 00:00:00

  • Molecular mechanisms underlying the models of neurodevelopmental disorders in maternal immune activation relevant to the placenta.

    abstract::The rapid rise in the prevalence of autism spectrum disorders (ASD) and other psychiatric disorders displaying similar traits has increased the need to elucidate their molecular mechanisms. Epidemiological studies have shown that maternal infection during mid-pregnancy is associated with increased risk of neurodevelop...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Tsukada T,Shimada H,Sakata-Haga H,Iizuka H,Hatta T

    更新日期:2019-05-01 00:00:00

  • Developmental toxicity of indium: embryotoxicity and teratogenicity in experimental animals.

    abstract::Indium, a precious metal classified in group 13 (IIIB) in the periodic table, has been used increasingly in the semiconductor industry. Because indium is a rare metal, technology for indium recycling from transparent conducting films for liquid crystal displays is desired, and its safety evaluation is becoming increas...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Nakajima M,Usami M,Nakazawa K,Arishima K,Yamamoto M

    更新日期:2008-12-01 00:00:00

  • Towards the understanding of Down syndrome using mouse models.

    abstract::Down syndrome (DS) is the most common cause of mental retardation. Several DS mouse models with partial trisomy 16 homologous to human chromosome 21 have been developed, and our research group has been studying those mouse models. We have shown a dosage-dependent overexpression of genes in the trisomic region of the m...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Yamakawa K

    更新日期:2012-06-01 00:00:00

  • Possible association between different congenital abnormalities and use of different sulfonamides during pregnancy.

    abstract::The objective of the study presented here was to check the debated human teratogenic potential of sulfonamide drugs. Five different sulfonamides such as sulfamethazine, sulfathiourea, sulfamethoxypyridazine, sulfamethoxydiazine and the combination of sulfamethazine-sulfathiourea-sulfamethoxypyridazine were differentia...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Czeizel AE,Puhó E,Sørensen HT,Olsen J

    更新日期:2004-06-01 00:00:00

  • Pseudoaprosencephaly: Aplasia of the Forebrain in a Median Facial Cleft Syndrome with Arhinia and Anophthalmia.

    abstract::Report of a female fetus aborted at the 25th week of gestation, with severe microcephalus, trigonocephaly, median cleft lip and palate, arhinia, and anophthalmia. On opening of the skull the cranial cavity seemed to be occupied only by hindbrain structures. The forebrain, including the tentorium cerebelli and the falx...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Schmitt HP,Born IA

    更新日期:1988-09-01 00:00:00

  • Abnormal expression of tyrosine hydroxylase not accompanied by phosphorylation at serine 40 in cerebellar Purkinje cells of ataxic mutant mice, rolling mouse Nagoya and dilute-lethal.

    abstract::This study examined immunohistochemically the expression of an enzymatically active form of tyrosine hydroxylase (TH), phosphorylated TH at Ser40 (phospho-TH), in the cerebellum of ataxic mutant mice, rolling mouse Nagoya (RMN) and dilute-lethal (DL). TH immunostaining appeared in some Purkinje cells in RMN and DL, bu...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Sawada K,Ando M,Sakata-Haga H,Sun XZ,Jeong YG,Hisano S,Takeda N,Fukui Y

    更新日期:2004-03-01 00:00:00

  • Alteration in anxiety-related behaviors and reduction of serotonergic neurons in raphe nuclei in adult rats prenatally exposed to ethanol.

    abstract::It is known that the developing serotonergic system is one of the targets of ethanol teratogenicity. Because serotonin has multiple functions in both mature and immature brains, disturbance of the serotonergic system by ethanol exposure in utero can be cause of a wide range of psychiatric problems in adulthood. In the...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Ohta K,Sakata-Haga H,Fukui Y

    更新日期:2010-06-01 00:00:00

  • Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?

    abstract::Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(p15.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers....

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Kosaki R,Higuchi M,Mitsui N,Matsushima K,Ohashi H,Kosaki K

    更新日期:2005-03-01 00:00:00

  • Extraction of DNA from human embryos after long-term preservation in formalin and Bouin's solutions.

    abstract::The "Kyoto Collection of Human Embryos" at Kyoto University was begun in 1961. Although morphological analyses of samples in the Kyoto Collection have been performed, these embryos have been considered difficult to genetically analyze because they have been preserved in formalin or Bouin's solution for 20-50 years. Ow...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Nagai M,Minegishi K,Komada M,Tsuchiya M,Kameda T,Yamada S

    更新日期:2016-05-01 00:00:00

  • Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis.

    abstract::We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and short stature), and appendicular exostoses similar to trichorhinophalangea...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Kikuchi N,Ogino T,Kashiwa H,Muragaki Y

    更新日期:2007-09-01 00:00:00

  • Molecular pathology of human cerebral malformations.

    abstract::Molecular pathogenesis of human cerebral malformations is briefly reviewed from a neuropathologic viewpoint, with emphasis on holoprosencephaly and neuronal migration disorders. Immunopathologic approaches are useful in elucidating the essential pathomechanism of these anomalies. In alobar holoprosencephaly, for insta...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Mizuguchi M

    更新日期:2003-03-01 00:00:00

  • Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.

    abstract::Many new microdeletion syndromes have been characterized in the past decade, including 2p15-p16.1 microdeletion syndrome. More than 10 patients with this syndrome have been described. Recently, we encountered two additional patients with 2p15-p16.1 microdeletion syndrome. All patients showed variable degrees of intell...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Shimojima K,Okamoto N,Yamamoto T

    更新日期:2015-08-01 00:00:00

  • Genome-wide screening of dioxin-responsive genes in fetal brain: bioinformatic and experimental approaches.

    abstract::Many of the effects of dioxins, which are potent environmental pollutants and teratogens, are mediated through the aryl hydrocarbon receptor, also known as the dioxin receptor. The purpose of the present study was to characterize dioxin-responsive genes in a comprehensive manner using two complementary approaches: bio...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Fujita H,Samejima H,Kitagawa N,Mitsuhashi T,Washio T,Yonemoto J,Tomita M,Takahashi T,Kosaki K

    更新日期:2006-09-01 00:00:00

  • Human diseases caused by germline and somatic abnormalities in microRNA and microRNA-related genes.

    abstract::The human genome harbors approximately 2000 genes that encode microRNAs (miRNAs), small non-coding RNAs of approximately 20-22 nt that mediate post-transcriptional gene silencing. MiRNAs are generated from long transcripts through stepwise processing by the Drosha/DGCR8, Exportin-5/RanGTP and Dicer/TRBP complexes. Giv...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Kawahara Y

    更新日期:2014-02-01 00:00:00

  • Cerebro-costo-mandibular syndrome: prognosis and proposal for classification.

    abstract::Cerebro-costo-mandibular syndrome (CCMS) is a very rare syndrome characterized by micrognathia and posterior rib gap, with a poor prognosis. To date, only 75 cases have been reported worldwide. The overall survival rate for patients with this disorder has not been reported, and a classification of the patients on the ...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Nagasawa H,Yamamoto Y,Kohno Y

    更新日期:2010-09-01 00:00:00

  • Herlyn-Werner-Wunderlich syndrome with pregnancy: a rare presentation.

    abstract::Müllerian duct anomalies are infrequently encountered clinical problems and often present with difficulty in diagnosis. A high level of suspicion is the key to diagnosis, which is usually made soon after menarche. However, this is the first reported case of uterus didelphys with obstructed hemivagina and pyocolpos wit...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Rana R,Pasrija S,Puri M

    更新日期:2008-09-01 00:00:00

  • Epigenetic alterations in sperm associated with male infertility.

    abstract::The most common form of male infertility is a low sperm count, known as oligozoospermia. Studies suggest that oligozoospermia is associated with epigenetic alterations. Epigenetic alterations in sperm, which may arise due to the exposure of gametes to environmental factors or those that pre-exist in the sperm of infer...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Kitamura A,Miyauchi N,Hamada H,Hiura H,Chiba H,Okae H,Sato A,John RM,Arima T

    更新日期:2015-08-01 00:00:00

  • Heart changes in 17-day-old fetuses of diabetic ICR (Institute of Cancer Research) mothers: improvement with maternal immune stimulation.

    abstract::Maternal diabetes mellitus is associated with increased fetal teratogenesis, including cardiovascular defects. Non-specific maternal immune stimulation with Freund's complete adjuvant (FCA) or interferon gamma (IFNgamma) has been associated with protection against birth malformations. Using a diabetic mouse model, lat...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Claudio Gutierrez J,Prater MR,Hrubec TC,Smith BJ,Freeman LE,Holladay SD

    更新日期:2009-03-01 00:00:00

  • Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.

    abstract::Wolf-Hirschhorn syndrome (WHS) is a subtelomeric deletion syndrome affecting the short arm of chromosome 4. The main clinical features are a typical craniofacial appearance, growth deficiency, developmental delays, and seizures. Previous genotype-phenotype correlation analyses showed some candidate regions for each cl...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Yamamoto-Shimojima K,Kouwaki M,Kawashima Y,Itomi K,Momosaki K,Ozasa S,Okamoto N,Yokochi K,Yamamoto T

    更新日期:2019-09-01 00:00:00

  • Structural birth defects associated with omphalocele and gastroschisis, Hawaii, 1986-2001.

    abstract::There is limited information on the specific structural birth defects associated with the abdominal wall defects (AWD) omphalocele and gastroschisis, particularly which defects occur with the AWD at greater than expected rates (rates among all infants and fetuses with birth defects other than the AWD). Using data from...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Forrester MB,Merz RD

    更新日期:2008-06-01 00:00:00

  • Drug safety in pregnancy: utopia or achievable prospect? Risk information, risk research and advocacy in Teratology Information Services.

    abstract::Even though from preclinical testing to drug risk labeling, the situation with drugs in pregnancy has improved substantially since the thalidomide scandal, there is still an increasing need to provide healthcare professionals and patients with updated individualized risk information for clinical decision making. For t...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Schaefer C

    更新日期:2011-03-01 00:00:00

  • Induction of a thoracolumbar supernumerary rib in rat developmental toxicity studies: A short discussion on the critical window.

    abstract::Thoracolumbar supernumerary ribs (TSRs) are classified as less severe skeletal anomalies in rat developmental toxicity studies, although their incidence is relatively high in rodent studies. To investigate the characteristics of the critical window for chemically-induced TSR, in this study, rats were administered 5-fl...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Kuwagata M,Senuma M,Todoroki M,Kumagai F,Kumamoto T,Ogawa T

    更新日期:2019-11-01 00:00:00

  • Neurological manifestations of 2q31 microdeletion syndrome.

    abstract::Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. ...

    journal_title:Congenital anomalies



    authors: Okamoto N,Kimura S,Shimojima K,Yamamoto T

    更新日期:2017-11-01 00:00:00

  • Magnetic resonance imaging based correlation analysis between calcarine sulcus development and isolated fetal ventriculomegaly.

    abstract::Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricl...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Li H,Liang H,Wu H

    更新日期:2017-03-01 00:00:00

  • Significance of sugar chain recognition by galectins and its involvement in disease-associated glycosylation.

    abstract::Galectins are β-galactoside-binding lectins that participate in a wide range of biological processes. Galectins are distributed both inside and outside cells and are believed to have roles in both intra- and extracellular milieus. One of the well-recognized functions of galectins is stabilization of glycoproteins on t...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Arikawa T,Simamura E,Shimada H,Nakamura T,Hatta T,Shoji H

    更新日期:2014-05-01 00:00:00

  • Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?

    abstract::Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Wonkam A,Extermann P,Birraux J,Fokstuen S

    更新日期:2011-06-01 00:00:00

  • The initial development of motor neurons in the neural tube of rat embryos.

    abstract::The time of origin of motor neurons and their distribution in the spinal cord was studied in rat embryos by combining whole-embryo culture and the Islet-1 immunostaining technique. Cells immunostained for Islet-1 appeared in the trunk neural tube by 27 hours (corresponding to E10.625) in culture of E9.5 embryos, at wh...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Matsuda M

    更新日期:2002-06-01 00:00:00

  • Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.

    abstract::The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting from WDR62 mutations. These mutations are associated with autosomal rece...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Bastaki F,Mohamed M,Nair P,Saif F,Tawfiq N,Aithala G,El-Halik M,Al-Ali M,Hamzeh AR

    更新日期:2016-05-01 00:00:00

  • Bifid choroid plexus: always a normal fetal brain structure variant?

    abstract::Choroid plexus, a fetal organ developing approximately from the sixth week of gestation, plays a fundamental role in developing fetal brain organization. As relatively little is known about the relationship between anomalies of choroid plexuses structure and their role in brain function, we examined cases of bifid cho...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Centini G,Imperatore A,Morelli M,Rosignoli L,Passamonti U,Caprioli F,Lituania M

    更新日期:2013-06-01 00:00:00