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Meiosis I

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Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...

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Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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Karyotyping

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Related Experiment Video

Updated: Jul 5, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Three cases of tetrasomy 9p.

S Dhandha¹, W A Hogge, U Surti

¹Department of Genetics, Magee-Womens Hospital, Pittsburgh, Pennsylvania 15213, USA.

American Journal of Medical Genetics

|November 29, 2002

Summary

Tetrasomy 9p is a chromosomal disorder with recognizable prenatal and birth findings. Early diagnosis is aided by characteristic ultrasound and physical features, with mosaic cases showing better survival.

Area of Science:

Genetics
Medical Genetics
Prenatal Diagnosis

Background:

Tetrasomy 9p is a rare chromosomal abnormality.
Characterizing its phenotype is crucial for diagnosis and management.
Prenatal diagnosis is increasingly feasible.

Observation:

Three cases of tetrasomy 9p are presented, two diagnosed prenatally.
Characteristic ultrasound findings include intrauterine growth restriction, ventriculomegaly, cleft lip/palate, and renal anomalies.
Distinct facial features are observed at birth, including hypertelorism, broad nasal bridge, cleft lip/palate, ear anomalies, and micrognathia.

Findings:

A recognizable phenotype for tetrasomy 9p is emerging.
Prenatal ultrasound findings can suggest the diagnosis.

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Facial dysmorphia is a key postnatal indicator.

Implications:

Early identification of tetrasomy 9p through prenatal screening is possible.
Recognizing the phenotype aids in timely diagnosis and genetic counseling.
Understanding severity predictors, like mosaicism, improves prognostic accuracy.