Incidence of malformation syndromes and chromosomal abnormalities in 22,063 newborn infants in Tokyo

Sex-chromosomal aberrations occur with a relatively high frequency and have been associated with mental retardation, perceptual problems, psychopathology, and growth abnormalities. Identification of this possibly high risk group at birth enables the study of their growth and development to determine if and when they deviate from normal. Routine screening of the chromatin constitution of 21,214 consecutive newborn infants has identified 32 babies with gross X chromosome abnormalities. Three died in the newborn period. During the past 5 years, 27 children have been followed from birth. The evaluation process consists of semiannual and annual physical and developmental examinations, psychological testing, growth measurements, pedigree analysis, dermatoglyphic analysis, home environment evaluation, and, in mosaics, repeated chromosome analysis. The patients with 45,X karyotypes have classical physical signs. The other patients have normal phenotypes, although several have minor physical manifestations such as clinodactyly and epicanthic folds. Overall development in all except two patients has been within normal limits. In mosaics, there is a tendency for the abnormal cell line to disappear.

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Clinically recognizable chromosomal abnormalities in newborn infants

American Journal of Medical Genetics ◽

10.1002/ajmg.1320370234 ◽

1990 ◽

Vol 37 (2) ◽

pp. 296-296 ◽

Cited By ~ 2

Author(s):

Károly Méhes ◽

Katalin Bajnóczky

Keyword(s):

Chromosomal Abnormalities ◽

Newborn Infants

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Rudimentary Testes Syndrome Revisited

PEDIATRICS ◽

10.1542/peds.80.2.209 ◽

1987 ◽

Vol 80 (2) ◽

pp. 209-214

Author(s):

Angelo Acquafredda ◽

Jean Vassal ◽

Jean-Claude Job

Keyword(s):

Luteinizing Hormone ◽

Leydig Cell ◽

Gonadal Dysgenesis ◽

Chromosomal Abnormalities ◽

Luteinizing Hormone Releasing Hormone ◽

Hormone Stimulation ◽

Xy Gonadal Dysgenesis ◽

Clear Differentiation ◽

Malformation Syndromes ◽

Male Karyotype

Sixteen children who were one day to 9 years of age underwent clinical, anatomic, and hormonal study because of extreme hypoplasia of the phallus and small testes associated with normal 46XY male karyotype. Two of them were first cousins. All patients had Leydig cell deficiency. Among 15 patients who received luteinizing hormone-releasing hormone stimulation during childhood, 11 had an exaggerated response of either one or both gonadotropins. Bilateral biopsy, performed in eight patients, showed a clearly testicular structure with either scant or incompletely differentiated tubules. These characteristics allow clear differentiation from chromosomal abnormalities and malformation syndromes. It is more difficult to differentiate between rudimentary testes and primary gonadotropic deficiencies and may not be possible until the child has reached adolescence. The syndrome of rudimentary testes may be a manifestation of XY primary gonadal dysplasia, along with pure XY gonadal dysgenesis, XY hermaphrodism, XY mixed gonadal dysgenesis, and congenital anorchia, probably resulting from fetal regression of the testes. The observed familial occurrence of the syndrome of rudimentary testes, as well as of XY gonadal dysgenesis, leads to speculation about the possibility of X-linked transmission.

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The birth prevalence of malformation syndromes in Tokyo infants: A survey of 14,430 newborn infants

American Journal of Medical Genetics ◽

10.1002/ajmg.1320060303 ◽

1980 ◽

Vol 6 (3) ◽

pp. 189-194 ◽

Cited By ~ 28

Author(s):

Makoto Higurashi ◽

Kumiko Iijima ◽

Yôko Sugimoto ◽

Norihiko Ishikawa ◽

Hiroki Hoshina ◽

...

Keyword(s):

Newborn Infants ◽

Birth Prevalence ◽

Malformation Syndromes

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Prognosis with X-Chromosomal Abnormalities: Neoplastic Disease

PEDIATRICS ◽

10.1542/peds.49.1.149 ◽

1972 ◽

Vol 49 (1) ◽

pp. 149-149

Author(s):

Doris Bartuska ◽

Linda Vardaro

Keyword(s):

Squamous Cell Carcinoma ◽

Cell Carcinoma ◽

Squamous Cell ◽

Vaginal Bleeding ◽

Chromosomal Abnormalities ◽

Newborn Infants ◽

Neoplastic Disease ◽

Buccal Smear ◽

Sex Chromatin ◽

Exophytic Type

The report of Eller, et al. on the prognosis in newborn infants with X-chromosomal abnormalities prompts this note. Because of our interest in cytogenetic factors in carcinogenesis, a routine buccal smear for sex chromatin is performed on all our patients with amenorrhea or irregular vaginal bleeding. Recently a 26-year-old woman with dysmenorrhea and irregular periods was seen. She had a mass arising from the cervix which was subsequently diagnosed as an unusual exophytic type of squamous cell carcinoma.

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IDENTIFICATION OF MOST COMMON CONGENITAL ABNORMALITY TYPES AMONG NEWBORN INFANTS: A HOSPITAL-BASED STUDY

Journal of Southwest Jiaotong University ◽

10.35741/issn.0258-2724.56.4.49 ◽

2021 ◽

Vol 56 (4) ◽

pp. 581-586

Author(s):

Manaf Authman Hreeth ◽

Omer Q. B. Allela ◽

Imad Jebur Rashid

Keyword(s):

Congenital Abnormality ◽

Cleft Lip ◽

Congenital Abnormalities ◽

Cleft Lip And Palate ◽

Chromosomal Abnormalities ◽

Newborn Infants ◽

Full Term ◽

Male Predominance ◽

Neurological Abnormalities ◽

Patau Syndrome

The term “congenital abnormalities” signifies a disruption in the normal process of organogenesis occurring before birth: the earlier the insult, the grosser the abnormality. This research is the largest study aimed at identifying the most common congenital abnormality types among newborn infants in the neonatal care unit (NCU) of the Al-Kadhymia teaching hospital, Baghdad, Iraq. This prospective study was carried out during the period from February 1 to August 1, 2011. A total of 2700 neonates were admitted to the NCU, and 100 newborn infants in the nursery care unit were proven to have congenital abnormalities by physical examination alone. The questionnaire for neonatal evaluation included: gestational age, sex, body weight, and type of congenital anomaly. The results showed that of the total (100) affected neonates, 63 (63%) were full term, 55% had neurological abnormalities, followed by 12% with cleft lip and palate and then 11% with chromosomal abnormalities (most of them had Down syndrome, only 3 cases had Edward syndrome, and 1 case had Patau syndrome). It can be concluded that most of the affected newborns were full term, with a slight male predominance. The incidence of neurological abnormalities was higher than other types of birth defects.

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COMMITTEE ON FETUS AND NEWBORN

PEDIATRICS ◽

10.1542/peds.39.6.935 ◽

1967 ◽

Vol 39 (6) ◽

pp. 935-939

Author(s):

WILLIAM A. SILVERMAN ◽

JEROLD F. LECEY ◽

ALICE BEARD ◽

AUDREY K. BROWN ◽

MARVIN CORNBLATH ◽

...

Keyword(s):

Birth Weight ◽

Chromosomal Abnormalities ◽

Close Association ◽

Newborn Infants ◽

Vital Statistics ◽

World Health ◽

Expert Committee ◽

Risk Of Death ◽

Uterine Growth ◽

Duration Of Gestation

A WORKSHOP MEETING of the Committee on Fetus and Newborn and Consultants was held in Chicago on October 22, 1966, to consider standard terms for the classification of newborn infants with respect to duration of gestation, birth weight, and intra-uterine growth. INTRODUCTION Liveborn infants have usually been classified according to weight at birth because of the close association between ponderal size and the risk of death in the first hours and days of life. This simple classification has been useful in developing uniform national and international vital statistics and the data have been used to plan public health programs aimed at reducing the incidence and the high mortality of neonates who are small at birth. However, the classification based on weight alone and the international definition of prematurity (≤2,500 gm), which equated birth size and fetal age, have had the effect of obscuring medically important differences between likesize infants of dissimilar gestational ages. In view of the evidence indicating that many of the neonates included within the limits of the international definition are not born prematurely (<37 weeks), the Expert Committee on Maternal and Child Health of the World Health Organization recommended that the concept of "prematurity" in the definition should give way to that of "low birth weight." Although the primary axis of classification (birth weight) remained unchanged, the new recommendation emphasized the need to use terms which make a clear distinction between size at birth and duration of gestation. In the past few years careful appraisal of newborn infants has revealed a growing number of associations between specific disorders in the neonatal period (e.g., antenatal infections, hypoglycemia, chromosomal abnormalities, respiratory distress syndrome) and either gestational age or aberrant intra-uterine growth.

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