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Duplication 12p and PallisterKillian syndrome
Duplication 12p and PallisterKillian syndrome

... Pallister–Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defects, ...
Title Superficial brachial artery continuing as the common
Title Superficial brachial artery continuing as the common

... at incidence of about 13%, and it continues as the radial artery twice as frequently as it continues as the ulnar artery, although it less frequently continues as both arteries (Bergman et al., 1988). We report a rare case that we encountered in the course of routine anatomical dissection in which t ...
Human Inheritance Lab
Human Inheritance Lab

... 1) If a man does not have Hitchhiker’s thumb, what are the two possible genotypes? 2) If a man is homozygous for Hitchhiker’s thumb and marries a woman with homozygous dominant alleles, what is the probability of them having children with Hitchhiker’s thumb? 4) Is anyone dominant for every trait? Is ...
Characterisation of interstitial duplications and triplications of
Characterisation of interstitial duplications and triplications of

... did not identify these duplications clearly. The size of the pericentromeric area of 15q varies greatly within the normal population and this can make duplications of the PWACR difficult to observe cytogenetically. A slight difference in the pericentromeric region was observed in both families but t ...
Reciprocal deletion and duplication at 2q23.1 indicates a
Reciprocal deletion and duplication at 2q23.1 indicates a

... ranging from small duplications of 0.068 Mb to 453 Mb (Figure 1) (Supplementary Table 1). Aligning the 2q23.1 duplications, the smallest region of overlap (SRO) was defined to one gene, MBD5, common to all duplications (Figure 1). No other genes were included in the SRO for all duplications or were ...
Knee Anatomy - Indiana University
Knee Anatomy - Indiana University

... Cruciate Ligaments • Posterior Cruciate Ligament (PCL)-It prevents the tibia from sliding backwards under the femur. • Injuries usually caused by Hyperextension ...
PP 6 - FA Joints_Pal_ROM - Doral Academy Preparatory
PP 6 - FA Joints_Pal_ROM - Doral Academy Preparatory

... • What is the ligament most commonly sprained on the lateral side? ...
Laboratory 4 Patterns of Inheritance (human)
Laboratory 4 Patterns of Inheritance (human)

... development—the ring fingers of boys and men are typically longer than their index fingers while in girls and women these fingers are usually the same or the index finger is slightly longer. More background information is in Appendix B The shorter index finger to ring finger may also be a sex-influe ...
Alterations to the remote control of Shh gene expression cause
Alterations to the remote control of Shh gene expression cause

... of the limb malformations; although, these display an overlapping spectrum of digital abnormalities. These are preaxial polydactyly type 2 (PPD2 which includes isolated triphalangial thumb), triphalangial thumb-polysyndactyly syndrome (TPTPS), syndactyly type IV (SD4) and Werner mesomelic syndrome ( ...
Heredity in Fingerprints
Heredity in Fingerprints

... The chance distribution of genes during reduction and the resulting variation in characters of offspring makes one person different from another. The particular combination of genes in one person will never occur again, and has not occurred before. Genes can be carried without indicating their prese ...
Two novel heterozygous mutations of EVC2 cause a mild phenotype
Two novel heterozygous mutations of EVC2 cause a mild phenotype

PDF - SAS Publishers
PDF - SAS Publishers

... Abstract: The muscles are notoriously variable and is quite common to find muscular anomalies in the course of routine dissection of human body. The anterior group of muscles are often divided into three layers i.e Superficial, Intermediate and deep layer. During routine dissection of upper limb for ...
Document
Document

... Cutaneous neurofibromas. Small, soft, skin-colored to pink polypoid papules that characterize NF1. They exhibit “button-holing” : they can be pressed down into the panniculus by light pressure and spring back when released ...
Cytogenetics
Cytogenetics

...  Onset ...
Genetics of Duane`s Retraction Syndrome
Genetics of Duane`s Retraction Syndrome

... • Higher incidence of other forms of strabismus • Alternatively reports of family memebers with normal eye movements but other anomalies known to be associated – Suggests variable expressivity ...
The hand is comprised of intrinsic muscles, important nerves and
The hand is comprised of intrinsic muscles, important nerves and

... that the extensor retinaculum was dissected off but a small region of the flexor retinaculum was still exposed. The deep fascia, palmar aponeurosis, had also been dissected off, as well as the palmaris brevis muscle. I noticed that the origins, carpal bones, were not exposed during my dissection but ...
Genotype and Phenotype Powerpoint
Genotype and Phenotype Powerpoint

... JOURNAL QUESTION Male alleles are both brown.  Female alleles are brown and white.  Show the possible outcomes for the offspring. ...
Polygenic Inheritance
Polygenic Inheritance

... II  Principle:  While  the  rules  of  Mendelian  inheritance  hold  true  for  many  situations  it  does  not   explain  them  all.    Polygenic  Inheritance  is  a  term  used  to  describe  cases  where  many  genes   contribute   ...
Clinical Genetics
Clinical Genetics

... malformations and birth defects called the 22q11.2 duplication syndrome.  Diagnosis of this duplication generally requires analysis by FISH on interphase cells or array CGH.  Some patients have a quadruple complement of this segment of chromosome 22 and are said to have cateye syndrome, which is c ...
Syndromic Craniosynostosis
Syndromic Craniosynostosis

... 1) Craniosynostosis: pansynostosis with brachycephaly approaching Kleeblattschadel 2) Midfacial retrusion and dental malocclusion are less pronounced than in Apert’s, 3) Variable soft tissue syndactyly of hands and feet, short digits, preaxial polydactyly. 4) syndactyly is only partial and usually s ...
Medical Genetics
Medical Genetics

... and Tetraploidy (4N) in man are incompatible with life unless they occur in mosaic form with a normal cell lines. • A small number of live born infants with pure triploidy have been reported but they have survived for only a matter of hours. • Cytogenetic studies on a spontaneous abortions indicates ...
Genetic Characteristic of the Usual Form of the Polydactyl Gene in
Genetic Characteristic of the Usual Form of the Polydactyl Gene in

... FACMG (Cat Fanciers’ Journal, 1998, pg 5) “polydactyly in mammals is classified by embryologists as either pre-axial or post axial. Axial refers to the folding of the embryonic limb. The thumb side is before the axis, or pre-axial, while the little finger is considered post-axial. When polydactyly i ...
Chapter 8 Using Dermatoglyphics from Down Syndrome and Class
Chapter 8 Using Dermatoglyphics from Down Syndrome and Class

... vessel-nerve pairs at the border between the dermis and epidermis during prenatal development. Features such as inadequate oxygen supply, abnormal nerve growth, unusual patterning or distribution of sweat glands, alterations of epithelial growth, or other features could influence ridge patterns. Bec ...
The Panda`s Thumb
The Panda`s Thumb

... wonder that evolution can fashion such a world of diversity and adequate design with such limited raw material: Although an organ may not have been originally formed for some special purpose, if it now serves for this end we are justified in saying that it is specially contrived for it. On the same ...
GENE - Indian Academy of Pediatrics
GENE - Indian Academy of Pediatrics

... "Polysyndactyly" describes both webbing and the presence of an extra number of fingers or toes. Polydactyly of the thumb or the great toe, is classified as preaxial polydactyly, while of the little finger, is called postaxial polydactyly. Affection of the three central digits is referred to as centr ...
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Polydactyly



Polydactyly or polydactylism (from Greek πολύς (polys), meaning ""many"", and δάκτυλος (daktylos), meaning ""finger""), also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes. Polydactyly is the opposite of oligodactyly (fewer fingers or toes).
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