Developmental Duplication Flashcards

1
Q

what bull (in Holstein Friesian breed) is used that causes cattle Citrullinaemia?

A

Linmack Kriss King

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2
Q

Developmental Duplication is common in what breed of cattle?

A

Angus cattle

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3
Q

a neural tube defect; cranial and spinal dysraphism (incomplete fusion)

A

developmental duplication

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4
Q

A condition that causes an additional leg

A

Polymelia

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5
Q

Acephalic conjoined ‘twin’

A

Axial duplication

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6
Q

within Dura of the CNS

A

intradural teratomas

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7
Q

fluid-filled cysts with black hairs;
within dura or extradural

A

Dermoid cysts and occipital skin flaps

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8
Q

fat tissue mass

A

lipomas

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9
Q

mild to severe facial defects;
maxillary brachygnathia;
mandibular prognathia

A

Craniofacial dysmorphogenesis

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10
Q

diprosopus (two faces);
diencephalon (two heads)

A

Craniofacial Duplications

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11
Q

deformed hindlegs with Arthrogryposis

A

Congenital arthrogryposis and hindlimb deformity

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12
Q

spinal cord tethering/ compression;
scoliosis associated with dysraphism (incomplete fusion) and vertebral anomalies

A

postnatal ataxia

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13
Q

high rates of postimplantation embryonic death & resorption

A

embryonic deaths

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14
Q

aka curly calf syndrome

A

arthrogryposis multiplex

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15
Q

congenital contracture and fixation of multiple joints

A

arthrogryposis multiplex

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16
Q

water head;
severe hydrocephalus –> cardiomegaly;
heritable recessive disorder

A

Neuropathic Hydrocephalus

17
Q

aka Fawn calf syndrome;
Marfanoid syndrome;
elongated limbs;
kyphosis (congenital contractures of the spine;
proximal joints of hindlimb;
muscular hypoplasia

A

Congenital Contractual Arachnodactyly

18
Q

Miniature Angus calf;
smaller for gestational age from conception;
poor growth;
cryptorchid male –> infertile

A

Proportionate dwarfism

19
Q

1 or more forms of Dwarfism;
mild chondrodysplasia;
potbelly;
thick/blocky shape;
elongated nose/ short face

A

Disproportionate Dwarfism

20
Q

Dexter cattle;
short-legged phenotype;
heterozygous for Bulldog calf;
in utero death;
micromelia (abnormally small extremities);
tongue protrusion;
short vertebral column and ribs

A

Dexter chondrodysplasia

21
Q

Severe fetal dystocia;
hydrops fetalis (fluid buildup in tissues and organs) OR anasarca (swelling of whole body);
pulmonary aplasia (failure of development of the primitive lung bud);
absence of lung tissue

A

pulmonary hypoplasia and anasarca

22
Q

pulmonary hypoplasia and anasarca is common in what breed of cattle?

A

Dexter cattle;

23
Q

congenital lethal malformation;
23% fetal mortality;
bilateral flexion of carpal & metacarpophalangeal joints;
digit rotation

A

complex vertebral malformation syndrome

24
Q

complex vertebral malformation syndrome is common in what cattle breed?

A

Holstein-Friesian

25
Q

complex vertebral malformation syndrome is the single base mutation of ___

A

SLC35A3

26
Q

Congenital, lethal;
Birth weight reduction to 10 kg;
shortening of spine;
long, slender limbs;
inferior brachygnathism;

A

Brachyspina

27
Q

brachyspina is common in what cattle breed?

A

Holstein-Friesian

28
Q

Brachyspina is the mutation of what gene?

A

FANCI (Fanconi anemia, complementation group I)