BRS Path terms Exam 2026 Questions
and Answers
Chediak Higashi syndrome - Correct answer-autosomal recessive, neutropenia,
albinism, cranial and peripheral neuropathy, tendency to develop repeated
infections, abnormal WBCs (abnormal mictotubul formation and large cytoplasmic
granules = lysosomes) p25
Cri du chat syndrome - Correct answer-5p chromosome deletion, severe mental
retardation, microcephaly, catlike cry, low birth weight, round face, hypertelorism
(wide eyes) p51
DiGeorge syndrome - Correct answer-aka velocardiofacial syndrome and CATCH
22 syndrome, micro deletion of 22q11, Cardiac abnormalities, Abnormal facies, T
cell deficit due to thymic hypoplasia, Cleft palate, Hypocalcemia due to
hypoparathyroidism, from poor development of 3rd and 4th cranial arches p51 and
p73
©COPYRIGHT 2025, ALL RIGHTS RESERVED 1
,Edwards syndrome - Correct answer-aka trisomy 18, mental retardation, prominent
occiput, micrognathia (small jaw), low::set ears, rocker::bottom feet, finger
deformities, congenital heart dx p51
Patau syndrome - Correct answer-aka trisomy 13, mental retardation,
microcephaly, micropthalmia, brain abnormalities, cleft lip/palate, polydactyly,
rockerbottom feet, congenital heart dx p51
Klinefelter syndrome - Correct answer-at least 2 X and one Y, hypogonadism, tall,
gynecomastia, low testosterone, high pituitary gonadotropins, infertility, p51
Turner syndrome - Correct answer-45 XO, female hypogonadism, hypothyroid,
short, webbed neck, 1* amenorrhea p52
Prader willi syndrome - Correct answer-paternal transmission del (15)(q11q13),
hypogonad, hypotonia, mental retardation, behavior probs, uncrontrolled appetite
p53
Angelman syndrome - Correct answer-materal transmission del(15)(q11q13), aka
happy puppet syndrome, mental retardation, ataxia, seizures, inappropriate laughter
p53
©COPYRIGHT 2025, ALL RIGHTS RESERVED 2
, Osler Weber Rendu syndrome - Correct answer-aka hereditary hemorrhagic
telangectasia, telangectasias in skin and mucous membranes, epistaxis, GI bleeds
p55 and p189
Marfan syndrome - Correct answer-deficient fibrillin (constituent of microfibrils),
arachnodactyly, ectopia lentis, aortic aneurysm, mitral valve prolapsed p55
Von Recklinhousen dx - Correct answer-aka neurofibromatosis, neurofibromas in
skin, schwannomas of CN VIII, café au lait spots, lisch nodules, skeletal disorders,
other tumors, mutated NF1 tumor suppressor gene, osteolytic lesions, brown
tumors p55 and p96 and 347
Von Hippel Lindau dx - Correct answer-hemangioblastoma or cavernous
hemangioma of cerebellum, brainstem or retina, adenomas, cysts in liver, kidney,
pancreas, and other organs, increased renal cell CA, gene = short arm of
chromosome 3 p55 and p127
Tay Sachs dx - Correct answer-deficient hexosaminidase A, GM2 ganglioside
accumulation, especially in neurons, CNS degeneration, mental/motor
deterioration, blindness, cherry red spot on macula, death by 4 years of age p56
Gaucher dx - Correct answer-deficient glucocerebrosidase, accumulation of
glucocerebroside in cells of mononuclear phagocyte system 3 types :: see p 56
©COPYRIGHT 2025, ALL RIGHTS RESERVED 3
and Answers
Chediak Higashi syndrome - Correct answer-autosomal recessive, neutropenia,
albinism, cranial and peripheral neuropathy, tendency to develop repeated
infections, abnormal WBCs (abnormal mictotubul formation and large cytoplasmic
granules = lysosomes) p25
Cri du chat syndrome - Correct answer-5p chromosome deletion, severe mental
retardation, microcephaly, catlike cry, low birth weight, round face, hypertelorism
(wide eyes) p51
DiGeorge syndrome - Correct answer-aka velocardiofacial syndrome and CATCH
22 syndrome, micro deletion of 22q11, Cardiac abnormalities, Abnormal facies, T
cell deficit due to thymic hypoplasia, Cleft palate, Hypocalcemia due to
hypoparathyroidism, from poor development of 3rd and 4th cranial arches p51 and
p73
©COPYRIGHT 2025, ALL RIGHTS RESERVED 1
,Edwards syndrome - Correct answer-aka trisomy 18, mental retardation, prominent
occiput, micrognathia (small jaw), low::set ears, rocker::bottom feet, finger
deformities, congenital heart dx p51
Patau syndrome - Correct answer-aka trisomy 13, mental retardation,
microcephaly, micropthalmia, brain abnormalities, cleft lip/palate, polydactyly,
rockerbottom feet, congenital heart dx p51
Klinefelter syndrome - Correct answer-at least 2 X and one Y, hypogonadism, tall,
gynecomastia, low testosterone, high pituitary gonadotropins, infertility, p51
Turner syndrome - Correct answer-45 XO, female hypogonadism, hypothyroid,
short, webbed neck, 1* amenorrhea p52
Prader willi syndrome - Correct answer-paternal transmission del (15)(q11q13),
hypogonad, hypotonia, mental retardation, behavior probs, uncrontrolled appetite
p53
Angelman syndrome - Correct answer-materal transmission del(15)(q11q13), aka
happy puppet syndrome, mental retardation, ataxia, seizures, inappropriate laughter
p53
©COPYRIGHT 2025, ALL RIGHTS RESERVED 2
, Osler Weber Rendu syndrome - Correct answer-aka hereditary hemorrhagic
telangectasia, telangectasias in skin and mucous membranes, epistaxis, GI bleeds
p55 and p189
Marfan syndrome - Correct answer-deficient fibrillin (constituent of microfibrils),
arachnodactyly, ectopia lentis, aortic aneurysm, mitral valve prolapsed p55
Von Recklinhousen dx - Correct answer-aka neurofibromatosis, neurofibromas in
skin, schwannomas of CN VIII, café au lait spots, lisch nodules, skeletal disorders,
other tumors, mutated NF1 tumor suppressor gene, osteolytic lesions, brown
tumors p55 and p96 and 347
Von Hippel Lindau dx - Correct answer-hemangioblastoma or cavernous
hemangioma of cerebellum, brainstem or retina, adenomas, cysts in liver, kidney,
pancreas, and other organs, increased renal cell CA, gene = short arm of
chromosome 3 p55 and p127
Tay Sachs dx - Correct answer-deficient hexosaminidase A, GM2 ganglioside
accumulation, especially in neurons, CNS degeneration, mental/motor
deterioration, blindness, cherry red spot on macula, death by 4 years of age p56
Gaucher dx - Correct answer-deficient glucocerebrosidase, accumulation of
glucocerebroside in cells of mononuclear phagocyte system 3 types :: see p 56
©COPYRIGHT 2025, ALL RIGHTS RESERVED 3
