Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Inborn Errors of Metabolism

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Background and Environment Affect Phenotype

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Epistasis Analysis

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

Genetic Lingo

Genetic Lingo

Teratogenicity

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Fibrochondrogenesis.

Indian journal of pediatrics·2017

Same author

Jatropha curcas-poisoning.

Indian journal of pediatrics·2017

Same author

Novel and recurrent mutations in WISP3 and an atypical phenotype.

American journal of medical genetics. Part A·2015

Same author

Cystic bone tuberculosis.

Indian journal of pediatrics·2011

Same author

Normal variants of skin in neonates.

Indian journal of dermatology, venereology and leprology·2010

Same author

Antenatal diagnosis of Larsen syndrome.

Indian journal of pediatrics·2010

Search research articles

Related Experiment Video

Updated: Jun 25, 2026

Preterm EEG: A Multimodal Neurophysiological Protocol

Preterm EEG: A Multimodal Neurophysiological Protocol

Published on: February 18, 2012

'Thinfat' phenotype in newborns.

M L Kulkarni¹, H P S Mythri, Akhil M Kulkarni

¹Department of Pediatrics JJM Medical College Dvangere, Davangere, Karnataka, India. kulkariml@yahoo.com

Indian Journal of Pediatrics

|February 12, 2009

Summary

The

Area of Science:

Neonatal physiology
Human genetics
Pediatric anthropometry

Background:

The 'thin fat' phenotype, characterized by low birth weight and increased truncal adiposity, is a poorly understood condition.
Investigating its prevalence and contributing factors in diverse populations is crucial for understanding neonatal development.

Purpose of the Study:

To determine the existence of the 'thin fat' phenotype in newborns in Central Karnataka.
To identify genetic and maternal environmental factors associated with this phenotype.

Main Methods:

Anthropometric measurements (weight, length, circumferences, skinfolds) were taken at birth for 1000 singleton term newborns.
Measurements were compared to reference data from Caucasian and Indian (Mysore) newborns.
Statistical analysis identified predictors of skinfold thickness.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Experiment Videos

Last Updated: Jun 25, 2026

Preterm EEG: A Multimodal Neurophysiological Protocol

Preterm EEG: A Multimodal Neurophysiological Protocol

Published on: February 18, 2012

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Main Results:

Davangere neonates were significantly smaller than Southampton (UK) Caucasian babies across all measurements (p < 0.001).
The greatest deficit was observed in birth weight, mid-arm, and head circumference.
Maternal body mass index, mid-arm circumference, and consanguinity were significant predictors of skinfold thickness.

Conclusions:

The 'thin fat' phenotype was confirmed in Davangere neonates, despite their smaller size.
Consanguinity, indicating a role for genetic factors, is important in the development of this phenotype.